Canonical Allele Identifier: CA375308662

Gene: POMT1

Linked Data

• gnomAD v4: 9-131511447-C-T
• MyVariant Identifiers: chr9:g.134386834C>T (hg19) ; chr9:g.131511447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511447C>T , CM000671.2:g.131511447C>T	GRCh38
NC_000009.11:g.134386834C>T , CM000671.1:g.134386834C>T	GRCh37
NC_000009.10:g.133376655C>T	NCBI36
NG_008896.1:g.13546C>T
NG_008896.2:g.13546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.804C>T	ENSP00000343034.7:p.His268=
ENST00000404875.7:n.1338C>T
ENST00000423007.6:c.1023C>T	ENSP00000404119.2:p.His341=
ENST00000677295.2:c.*1305C>T	ENSP00000504346.2:n.*1305C>T
ENST00000678264.2:c.*1149C>T	ENSP00000503157.2:n.*1149C>T
ENST00000678942.2:c.*519C>T	ENSP00000504690.2:n.*519C>T
ENST00000682070.1:n.1426C>T
ENST00000682813.1:n.1231C>T
ENST00000683134.1:c.333C>T
ENST00000683392.1:n.3713C>T
ENST00000683712.1:n.1366C>T
ENST00000683900.1:n.2293C>T
ENST00000684062.1:n.1632C>T
ENST00000684579.1:n.2807C>T
ENST00000341012.12:c.804C>T	ENSP00000343034.7:p.His268=
ENST00000372220.5:c.-145-594C>T	ENSP00000361294.5:n.-145-594C>T
ENST00000372228.9:c.1032C>T	ENSP00000361302.3:p.His344=
ENST00000402686.8:c.966C>T MANE Select	ENSP00000385797.4:p.His322=
ENST00000415075.6:c.*419C>T	ENSP00000405149.2:n.*419C>T
ENST00000676640.1:c.966C>T	ENSP00000503281.1:p.His322=
ENST00000676803.1:c.141C>T	ENSP00000503093.1:p.His47=
ENST00000676835.1:c.*176C>T	ENSP00000502911.1:n.*176C>T
ENST00000677029.1:c.510C>T	ENSP00000502936.1:p.His170=
ENST00000677099.1:c.*676C>T	ENSP00000504553.1:n.*676C>T
ENST00000677216.1:c.615C>T	ENSP00000503772.1:p.His205=
ENST00000677293.1:c.141C>T	ENSP00000504278.1:p.His47=
ENST00000677295.1:c.*338C>T	ENSP00000504346.1:n.*338C>T
ENST00000677444.1:c.772C>T
ENST00000677586.1:n.447C>T
ENST00000677626.1:c.804C>T	ENSP00000503552.1:p.His268=
ENST00000677677.1:n.926C>T
ENST00000677853.1:c.547C>T	ENSP00000503488.1:p.Pro183Ser
ENST00000677944.1:c.228C>T
ENST00000678264.1:c.*338C>T	ENSP00000503157.1:n.*338C>T
ENST00000678303.1:c.876C>T	ENSP00000503696.1:p.His292=
ENST00000678366.1:c.*1215C>T	ENSP00000504353.1:n.*1215C>T
ENST00000678546.1:c.*338C>T	ENSP00000503062.1:n.*338C>T
ENST00000678548.1:c.*1033C>T	ENSP00000503934.1:n.*1033C>T
ENST00000678626.1:n.658C>T
ENST00000678733.1:c.140C>T
ENST00000678739.1:c.*1287C>T	ENSP00000503806.1:n.*1287C>T
ENST00000678833.1:c.*413C>T	ENSP00000503893.1:n.*413C>T
ENST00000678942.1:c.141C>T	ENSP00000504690.1:p.His47=
ENST00000679023.1:c.804C>T	ENSP00000503718.1:p.His268=
ENST00000679073.1:c.344C>T	ENSP00000504356.1:n.344C>T
ENST00000679076.1:c.580C>T
ENST00000679111.1:c.966C>T	ENSP00000504257.1:p.His322=
ENST00000679189.1:c.615C>T	ENSP00000503356.1:p.His205=
ENST00000341012.11:c.804C>T	ENSP00000343034.7:p.His268=
ENST00000372228.7:c.1032C>T	ENSP00000361302.3:p.His344=
ENST00000402686.7:c.966C>T	ENSP00000385797.3:p.His322=
ENST00000404875.6:c.615C>T	ENSP00000384531.2:p.His205=
ENST00000415075.5:c.358C>T	ENSP00000405149.1:p.Pro120Ser
ENST00000423007.5:c.966C>T	ENSP00000404119.1:p.His322=
ENST00000441334.5:c.681C>T	ENSP00000395060.1:p.His227=
ENST00000462375.5:n.787C>T
ENST00000485278.5:n.948C>T
NM_001077365.1:c.966C>T	NP_001070833.1:p.His322=
NM_001077366.1:c.804C>T	NP_001070834.1:p.His268=
NM_001136113.1:c.966C>T	NP_001129585.1:p.His322=
NM_001136114.1:c.615C>T	NP_001129586.1:p.His205=
NM_007171.3:c.1032C>T	NP_009102.3:p.His344=
XM_005272156.1:c.1032C>T	XP_005272213.1:p.His344=
XM_005272158.1:c.870C>T	XP_005272215.1:p.His290=
XM_005272159.1:c.681C>T	XP_005272216.1:p.His227=
XM_005272162.1:c.-171C>T	XP_005272219.1:n.-171C>T
XM_006716932.1:c.681C>T	XP_006716995.1:p.His227=
XM_011518140.1:c.885C>T	XP_011516442.1:p.His295=
XM_011518141.1:c.819C>T	XP_011516443.1:p.His273=
XM_011518142.1:c.723C>T	XP_011516444.1:p.His241=
XM_011518143.1:c.712C>T	XP_011516445.1:p.Pro238Ser
XM_011518144.1:c.1032C>T	XP_011516446.1:p.His344=
XM_011518145.1:c.576C>T	XP_011516447.1:p.His192=
XM_011518146.1:c.712C>T	XP_011516448.1:p.Pro238Ser
XR_929703.1:n.1208C>T
NM_001353193.1:c.1032C>T	NP_001340122.1:p.His344=
NM_001353194.1:c.804C>T	NP_001340123.1:p.His268=
NM_001353195.1:c.615C>T	NP_001340124.1:p.His205=
NM_001353196.1:c.876C>T	NP_001340125.1:p.His292=
NM_001353197.1:c.870C>T	NP_001340126.1:p.His290=
NM_001353198.1:c.870C>T	NP_001340127.1:p.His290=
NM_001353199.1:c.681C>T	NP_001340128.1:p.His227=
NM_001353200.1:c.510C>T	NP_001340129.1:p.His170=
NR_148391.1:n.1016C>T
NR_148392.1:n.1234C>T
NR_148393.1:n.1016C>T
NR_148394.1:n.904C>T
NR_148395.1:n.1168C>T
NR_148396.1:n.797C>T
NR_148397.1:n.1061C>T
NR_148398.1:n.1016C>T
NR_148399.1:n.1408C>T
NR_148400.1:n.1002C>T
XM_005272162.3:c.-171C>T	XP_005272219.1:n.-171C>T
XM_006716932.2:c.681C>T	XP_006716995.1:p.His227=
XM_011518140.2:c.885C>T	XP_011516442.1:p.His295=
XM_011518141.2:c.819C>T	XP_011516443.1:p.His273=
XM_011518142.2:c.723C>T	XP_011516444.1:p.His241=
XM_011518143.2:c.712C>T	XP_011516445.1:p.Pro238Ser
XM_011518145.2:c.576C>T	XP_011516447.1:p.His192=
XM_017014205.2:c.-171C>T	XP_016869694.1:n.-171C>T
XM_024447380.1:c.-171C>T	XP_024303148.1:n.-171C>T
XM_024447381.1:c.141C>T	XP_024303149.1:p.His47=
XM_024447382.1:c.-171C>T	XP_024303150.1:n.-171C>T
XR_001746160.2:n.1136C>T
XR_001746162.2:n.1202C>T
XR_001746164.1:n.914C>T
XR_001746166.2:n.1353C>T
NM_001077365.2:c.966C>T MANE Select	NP_001070833.1:p.His322=
NM_001077366.2:c.804C>T	NP_001070834.1:p.His268=
NM_001136113.2:c.966C>T	NP_001129585.1:p.His322=
NM_001136114.2:c.615C>T	NP_001129586.1:p.His205=
NM_001353193.2:c.1032C>T	NP_001340122.2:p.His344=
NM_001353194.2:c.804C>T	NP_001340123.1:p.His268=
NM_001353195.2:c.615C>T	NP_001340124.1:p.His205=
NM_001353196.2:c.876C>T	NP_001340125.1:p.His292=
NM_001353197.2:c.870C>T	NP_001340126.2:p.His290=
NM_001353198.2:c.870C>T	NP_001340127.2:p.His290=
NM_001353199.2:c.681C>T	NP_001340128.2:p.His227=
NM_001353200.2:c.510C>T	NP_001340129.1:p.His170=
NM_001374689.1:c.949C>T	NP_001361618.1:p.Pro317Ser
NM_001374690.1:c.966C>T	NP_001361619.1:p.His322=
NM_001374691.1:c.615C>T	NP_001361620.1:p.His205=
NM_001374692.1:c.615C>T	NP_001361621.1:p.His205=
NM_001374693.1:c.804C>T	NP_001361622.1:p.His268=
NM_001374695.1:c.576C>T	NP_001361624.1:p.His192=
NM_007171.4:c.1032C>T	NP_009102.4:p.His344=
NR_148391.2:n.1000C>T
NR_148392.2:n.1218C>T
NR_148393.2:n.1000C>T
NR_148394.2:n.888C>T
NR_148395.2:n.1152C>T
NR_148396.2:n.781C>T
NR_148397.2:n.1045C>T
NR_148398.2:n.1000C>T
NR_148399.2:n.1392C>T
NR_148400.2:n.986C>T