Canonical Allele Identifier: CA375308372

Gene: POMT1

Linked Data

• dbSNP Id: rs1184403372
• gnomAD v2: 9-134386754-C-A
• gnomAD v4: 9-131511367-C-A
• MyVariant Identifiers: chr9:g.134386754C>A (hg19) ; chr9:g.131511367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511367C>A , CM000671.2:g.131511367C>A	GRCh38
NC_000009.11:g.134386754C>A , CM000671.1:g.134386754C>A	GRCh37
NC_000009.10:g.133376575C>A	NCBI36
NG_008896.1:g.13466C>A
NG_008896.2:g.13466C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.724C>A	ENSP00000343034.7:p.Pro242Thr
ENST00000404875.7:n.1258C>A
ENST00000423007.6:c.943C>A	ENSP00000404119.2:p.Pro315Thr
ENST00000677295.2:c.*1225C>A	ENSP00000504346.2:n.*1225C>A
ENST00000678264.2:c.*1069C>A	ENSP00000503157.2:n.*1069C>A
ENST00000678942.2:c.*439C>A	ENSP00000504690.2:n.*439C>A
ENST00000682070.1:n.1346C>A
ENST00000682813.1:n.1151C>A
ENST00000683134.1:c.253C>A
ENST00000683392.1:n.3633C>A
ENST00000683712.1:n.1286C>A
ENST00000683900.1:n.2213C>A
ENST00000684062.1:n.1552C>A
ENST00000684579.1:n.2727C>A
ENST00000341012.12:c.724C>A	ENSP00000343034.7:p.Pro242Thr
ENST00000372220.5:c.-145-674C>A	ENSP00000361294.5:n.-145-674C>A
ENST00000372228.9:c.952C>A	ENSP00000361302.3:p.Pro318Thr
ENST00000402686.8:c.886C>A MANE Select	ENSP00000385797.4:p.Pro296Thr
ENST00000415075.6:c.*339C>A	ENSP00000405149.2:n.*339C>A
ENST00000676640.1:c.886C>A	ENSP00000503281.1:p.Pro296Thr
ENST00000676803.1:c.61C>A	ENSP00000503093.1:p.Pro21Thr
ENST00000676835.1:c.*96C>A	ENSP00000502911.1:n.*96C>A
ENST00000677029.1:c.430C>A	ENSP00000502936.1:p.Pro144Thr
ENST00000677099.1:c.*596C>A	ENSP00000504553.1:n.*596C>A
ENST00000677216.1:c.535C>A	ENSP00000503772.1:p.Pro179Thr
ENST00000677293.1:c.61C>A	ENSP00000504278.1:p.Pro21Thr
ENST00000677295.1:c.*258C>A	ENSP00000504346.1:n.*258C>A
ENST00000677444.1:c.692C>A
ENST00000677586.1:n.367C>A
ENST00000677626.1:c.724C>A	ENSP00000503552.1:p.Pro242Thr
ENST00000677677.1:n.846C>A
ENST00000677853.1:c.467C>A	ENSP00000503488.1:p.Ala156Asp
ENST00000677944.1:c.148C>A
ENST00000678264.1:c.*258C>A	ENSP00000503157.1:n.*258C>A
ENST00000678303.1:c.796C>A	ENSP00000503696.1:p.Pro266Thr
ENST00000678366.1:c.*1135C>A	ENSP00000504353.1:n.*1135C>A
ENST00000678546.1:c.*258C>A	ENSP00000503062.1:n.*258C>A
ENST00000678548.1:c.*953C>A	ENSP00000503934.1:n.*953C>A
ENST00000678626.1:n.578C>A
ENST00000678707.1:n.524C>A
ENST00000678733.1:c.60C>A
ENST00000678739.1:c.*1207C>A	ENSP00000503806.1:n.*1207C>A
ENST00000678833.1:c.*333C>A	ENSP00000503893.1:n.*333C>A
ENST00000678942.1:c.61C>A	ENSP00000504690.1:p.Pro21Thr
ENST00000679023.1:c.724C>A	ENSP00000503718.1:p.Pro242Thr
ENST00000679073.1:c.264C>A	ENSP00000504356.1:n.264C>A
ENST00000679076.1:c.500C>A
ENST00000679111.1:c.886C>A	ENSP00000504257.1:p.Pro296Thr
ENST00000679189.1:c.535C>A	ENSP00000503356.1:p.Pro179Thr
ENST00000341012.11:c.724C>A	ENSP00000343034.7:p.Pro242Thr
ENST00000372228.7:c.952C>A	ENSP00000361302.3:p.Pro318Thr
ENST00000402686.7:c.886C>A	ENSP00000385797.3:p.Pro296Thr
ENST00000404875.6:c.535C>A	ENSP00000384531.2:p.Pro179Thr
ENST00000415075.5:c.278C>A	ENSP00000405149.1:p.Ala93Asp
ENST00000423007.5:c.886C>A	ENSP00000404119.1:p.Pro296Thr
ENST00000441334.5:c.601C>A	ENSP00000395060.1:p.Pro201Thr
ENST00000462375.5:n.707C>A
ENST00000485278.5:n.868C>A
NM_001077365.1:c.886C>A	NP_001070833.1:p.Pro296Thr
NM_001077366.1:c.724C>A	NP_001070834.1:p.Pro242Thr
NM_001136113.1:c.886C>A	NP_001129585.1:p.Pro296Thr
NM_001136114.1:c.535C>A	NP_001129586.1:p.Pro179Thr
NM_007171.3:c.952C>A	NP_009102.3:p.Pro318Thr
XM_005272156.1:c.952C>A	XP_005272213.1:p.Pro318Thr
XM_005272158.1:c.790C>A	XP_005272215.1:p.Pro264Thr
XM_005272159.1:c.601C>A	XP_005272216.1:p.Pro201Thr
XM_005272162.1:c.-251C>A	XP_005272219.1:n.-251C>A
XM_006716932.1:c.601C>A	XP_006716995.1:p.Pro201Thr
XM_011518140.1:c.805C>A	XP_011516442.1:p.Pro269Thr
XM_011518141.1:c.739C>A	XP_011516443.1:p.Pro247Thr
XM_011518142.1:c.643C>A	XP_011516444.1:p.Pro215Thr
XM_011518143.1:c.632C>A	XP_011516445.1:p.Ala211Asp
XM_011518144.1:c.952C>A	XP_011516446.1:p.Pro318Thr
XM_011518145.1:c.496C>A	XP_011516447.1:p.Pro166Thr
XM_011518146.1:c.632C>A	XP_011516448.1:p.Ala211Asp
XR_929703.1:n.1128C>A
NM_001353193.1:c.952C>A	NP_001340122.1:p.Pro318Thr
NM_001353194.1:c.724C>A	NP_001340123.1:p.Pro242Thr
NM_001353195.1:c.535C>A	NP_001340124.1:p.Pro179Thr
NM_001353196.1:c.796C>A	NP_001340125.1:p.Pro266Thr
NM_001353197.1:c.790C>A	NP_001340126.1:p.Pro264Thr
NM_001353198.1:c.790C>A	NP_001340127.1:p.Pro264Thr
NM_001353199.1:c.601C>A	NP_001340128.1:p.Pro201Thr
NM_001353200.1:c.430C>A	NP_001340129.1:p.Pro144Thr
NR_148391.1:n.936C>A
NR_148392.1:n.1154C>A
NR_148393.1:n.936C>A
NR_148394.1:n.824C>A
NR_148395.1:n.1088C>A
NR_148396.1:n.717C>A
NR_148397.1:n.981C>A
NR_148398.1:n.936C>A
NR_148399.1:n.1328C>A
NR_148400.1:n.922C>A
XM_005272162.3:c.-251C>A	XP_005272219.1:n.-251C>A
XM_006716932.2:c.601C>A	XP_006716995.1:p.Pro201Thr
XM_011518140.2:c.805C>A	XP_011516442.1:p.Pro269Thr
XM_011518141.2:c.739C>A	XP_011516443.1:p.Pro247Thr
XM_011518142.2:c.643C>A	XP_011516444.1:p.Pro215Thr
XM_011518143.2:c.632C>A	XP_011516445.1:p.Ala211Asp
XM_011518145.2:c.496C>A	XP_011516447.1:p.Pro166Thr
XM_017014205.2:c.-251C>A	XP_016869694.1:n.-251C>A
XM_024447380.1:c.-251C>A	XP_024303148.1:n.-251C>A
XM_024447381.1:c.61C>A	XP_024303149.1:p.Pro21Thr
XM_024447382.1:c.-251C>A	XP_024303150.1:n.-251C>A
XR_001746160.2:n.1056C>A
XR_001746162.2:n.1122C>A
XR_001746164.1:n.834C>A
XR_001746166.2:n.1273C>A
NM_001077365.2:c.886C>A MANE Select	NP_001070833.1:p.Pro296Thr
NM_001077366.2:c.724C>A	NP_001070834.1:p.Pro242Thr
NM_001136113.2:c.886C>A	NP_001129585.1:p.Pro296Thr
NM_001136114.2:c.535C>A	NP_001129586.1:p.Pro179Thr
NM_001353193.2:c.952C>A	NP_001340122.2:p.Pro318Thr
NM_001353194.2:c.724C>A	NP_001340123.1:p.Pro242Thr
NM_001353195.2:c.535C>A	NP_001340124.1:p.Pro179Thr
NM_001353196.2:c.796C>A	NP_001340125.1:p.Pro266Thr
NM_001353197.2:c.790C>A	NP_001340126.2:p.Pro264Thr
NM_001353198.2:c.790C>A	NP_001340127.2:p.Pro264Thr
NM_001353199.2:c.601C>A	NP_001340128.2:p.Pro201Thr
NM_001353200.2:c.430C>A	NP_001340129.1:p.Pro144Thr
NM_001374689.1:c.869C>A	NP_001361618.1:p.Ala290Asp
NM_001374690.1:c.886C>A	NP_001361619.1:p.Pro296Thr
NM_001374691.1:c.535C>A	NP_001361620.1:p.Pro179Thr
NM_001374692.1:c.535C>A	NP_001361621.1:p.Pro179Thr
NM_001374693.1:c.724C>A	NP_001361622.1:p.Pro242Thr
NM_001374695.1:c.496C>A	NP_001361624.1:p.Pro166Thr
NM_007171.4:c.952C>A	NP_009102.4:p.Pro318Thr
NR_148391.2:n.920C>A
NR_148392.2:n.1138C>A
NR_148393.2:n.920C>A
NR_148394.2:n.808C>A
NR_148395.2:n.1072C>A
NR_148396.2:n.701C>A
NR_148397.2:n.965C>A
NR_148398.2:n.920C>A
NR_148399.2:n.1312C>A
NR_148400.2:n.906C>A