Canonical Allele Identifier: CA375311966

Gene: POMT1

Linked Data

• dbSNP Id: rs1333644044
• gnomAD v2: 9-134394288-C-G
• gnomAD v4: 9-131518901-C-G
• MyVariant Identifiers: chr9:g.134394288C>G (hg19) ; chr9:g.131518901C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518901C>G , CM000671.2:g.131518901C>G	GRCh38
NC_000009.11:g.134394288C>G , CM000671.1:g.134394288C>G	GRCh37
NC_000009.10:g.133384109C>G	NCBI36
NG_008896.1:g.21000C>G
NG_008896.2:g.21000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1268C>G	ENSP00000343034.7:p.Ser423Cys
ENST00000404875.7:n.1970C>G
ENST00000423007.6:c.1487C>G	ENSP00000404119.2:p.Ser496Cys
ENST00000677295.2:c.*1774C>G	ENSP00000504346.2:n.*1774C>G
ENST00000678264.2:c.*1613C>G	ENSP00000503157.2:n.*1613C>G
ENST00000682070.1:n.1895C>G
ENST00000682539.1:c.368C>G
ENST00000682813.1:n.1834C>G
ENST00000683392.1:n.4177C>G
ENST00000683712.1:n.1835C>G
ENST00000683900.1:n.3330C>G
ENST00000684062.1:n.2096C>G
ENST00000684579.1:n.3276C>G
ENST00000684679.1:n.657C>G
ENST00000341012.12:c.1268C>G	ENSP00000343034.7:p.Ser423Cys
ENST00000372220.5:c.299C>G	ENSP00000361294.5:p.Ser100Cys
ENST00000372228.9:c.1496C>G	ENSP00000361302.3:p.Ser499Cys
ENST00000402686.8:c.1430C>G MANE Select	ENSP00000385797.4:p.Ser477Cys
ENST00000676640.1:c.1430C>G	ENSP00000503281.1:p.Ser477Cys
ENST00000676803.1:c.605C>G	ENSP00000503093.1:p.Ser202Cys
ENST00000676835.1:c.*645C>G	ENSP00000502911.1:n.*645C>G
ENST00000677029.1:c.974C>G	ENSP00000502936.1:p.Ser325Cys
ENST00000677099.1:c.*1140C>G	ENSP00000504553.1:n.*1140C>G
ENST00000677216.1:c.1079C>G	ENSP00000503772.1:p.Ser360Cys
ENST00000677221.1:n.455C>G
ENST00000677295.1:c.*807C>G	ENSP00000504346.1:n.*807C>G
ENST00000677444.1:c.1375C>G
ENST00000677586.1:n.911C>G
ENST00000677626.1:c.1079C>G	ENSP00000503552.1:p.Ser360Cys
ENST00000677677.1:n.1390C>G
ENST00000677853.1:c.*438C>G	ENSP00000503488.1:n.*438C>G
ENST00000678202.1:n.589C>G
ENST00000678264.1:c.*807C>G	ENSP00000503157.1:n.*807C>G
ENST00000678303.1:c.1340C>G	ENSP00000503696.1:p.Ser447Cys
ENST00000678366.1:c.*1679C>G	ENSP00000504353.1:n.*1679C>G
ENST00000678546.1:c.*1375C>G	ENSP00000503062.1:n.*1375C>G
ENST00000678548.1:c.*1502C>G	ENSP00000503934.1:n.*1502C>G
ENST00000678626.1:n.1266C>G
ENST00000678733.1:c.511C>G
ENST00000678739.1:c.*1756C>G	ENSP00000503806.1:n.*1756C>G
ENST00000678833.1:c.*877C>G	ENSP00000503893.1:n.*877C>G
ENST00000679023.1:c.1268C>G	ENSP00000503718.1:p.Ser423Cys
ENST00000679076.1:c.1049C>G
ENST00000679111.1:c.*186C>G	ENSP00000504257.1:n.*186C>G
ENST00000679189.1:c.1079C>G	ENSP00000503356.1:p.Ser360Cys
ENST00000341012.11:c.1268C>G	ENSP00000343034.7:p.Ser423Cys
ENST00000372220.4:c.293C>G	ENSP00000361294.4:p.Ser98Cys
ENST00000372228.7:c.1496C>G	ENSP00000361302.3:p.Ser499Cys
ENST00000402686.7:c.1430C>G	ENSP00000385797.3:p.Ser477Cys
ENST00000404875.6:c.1079C>G	ENSP00000384531.2:p.Ser360Cys
ENST00000423007.5:c.1430C>G	ENSP00000404119.1:p.Ser477Cys
ENST00000467848.1:n.134C>G
ENST00000485278.5:n.1985C>G
NM_001077365.1:c.1430C>G	NP_001070833.1:p.Ser477Cys
NM_001077366.1:c.1268C>G	NP_001070834.1:p.Ser423Cys
NM_001136113.1:c.1430C>G	NP_001129585.1:p.Ser477Cys
NM_001136114.1:c.1079C>G	NP_001129586.1:p.Ser360Cys
NM_007171.3:c.1496C>G	NP_009102.3:p.Ser499Cys
XM_005272156.1:c.1496C>G	XP_005272213.1:p.Ser499Cys
XM_005272158.1:c.1334C>G	XP_005272215.1:p.Ser445Cys
XM_005272159.1:c.1145C>G	XP_005272216.1:p.Ser382Cys
XM_005272162.1:c.299C>G	XP_005272219.1:p.Ser100Cys
XM_006716932.1:c.1145C>G	XP_006716995.1:p.Ser382Cys
XM_011518140.1:c.1349C>G	XP_011516442.1:p.Ser450Cys
XM_011518141.1:c.1283C>G	XP_011516443.1:p.Ser428Cys
XM_011518142.1:c.1187C>G	XP_011516444.1:p.Ser396Cys
XM_011518143.1:c.1181C>G	XP_011516445.1:p.Ser394Cys
XM_011518145.1:c.1040C>G	XP_011516447.1:p.Ser347Cys
XM_011518147.1:c.368C>G	XP_011516449.1:p.Ser123Cys
XR_929703.1:n.1672C>G
NM_001353193.1:c.1496C>G	NP_001340122.1:p.Ser499Cys
NM_001353194.1:c.1268C>G	NP_001340123.1:p.Ser423Cys
NM_001353195.1:c.1079C>G	NP_001340124.1:p.Ser360Cys
NM_001353196.1:c.1340C>G	NP_001340125.1:p.Ser447Cys
NM_001353197.1:c.1334C>G	NP_001340126.1:p.Ser445Cys
NM_001353198.1:c.1334C>G	NP_001340127.1:p.Ser445Cys
NM_001353199.1:c.1145C>G	NP_001340128.1:p.Ser382Cys
NM_001353200.1:c.974C>G	NP_001340129.1:p.Ser325Cys
NR_148391.1:n.1480C>G
NR_148392.1:n.1698C>G
NR_148393.1:n.1619C>G
NR_148394.1:n.1373C>G
NR_148395.1:n.1771C>G
NR_148396.1:n.1405C>G
NR_148397.1:n.1530C>G
NR_148398.1:n.1485C>G
NR_148399.1:n.2011C>G
NR_148400.1:n.1610C>G
XM_005272162.3:c.299C>G	XP_005272219.1:p.Ser100Cys
XM_006716932.2:c.1145C>G	XP_006716995.1:p.Ser382Cys
XM_011518140.2:c.1349C>G	XP_011516442.1:p.Ser450Cys
XM_011518141.2:c.1283C>G	XP_011516443.1:p.Ser428Cys
XM_011518142.2:c.1187C>G	XP_011516444.1:p.Ser396Cys
XM_011518143.2:c.1181C>G	XP_011516445.1:p.Ser394Cys
XM_011518145.2:c.1040C>G	XP_011516447.1:p.Ser347Cys
XM_017014205.2:c.299C>G	XP_016869694.1:p.Ser100Cys
XM_024447380.1:c.299C>G	XP_024303148.1:p.Ser100Cys
XM_024447381.1:c.605C>G	XP_024303149.1:p.Ser202Cys
XM_024447382.1:c.299C>G	XP_024303150.1:p.Ser100Cys
XR_001746160.2:n.1600C>G
XR_001746162.2:n.1805C>G
XR_001746164.1:n.1522C>G
XR_001746166.2:n.1817C>G
NM_001077365.2:c.1430C>G MANE Select	NP_001070833.1:p.Ser477Cys
NM_001077366.2:c.1268C>G	NP_001070834.1:p.Ser423Cys
NM_001136113.2:c.1430C>G	NP_001129585.1:p.Ser477Cys
NM_001136114.2:c.1079C>G	NP_001129586.1:p.Ser360Cys
NM_001353193.2:c.1496C>G	NP_001340122.2:p.Ser499Cys
NM_001353194.2:c.1268C>G	NP_001340123.1:p.Ser423Cys
NM_001353195.2:c.1079C>G	NP_001340124.1:p.Ser360Cys
NM_001353196.2:c.1340C>G	NP_001340125.1:p.Ser447Cys
NM_001353197.2:c.1334C>G	NP_001340126.2:p.Ser445Cys
NM_001353198.2:c.1334C>G	NP_001340127.2:p.Ser445Cys
NM_001353199.2:c.1145C>G	NP_001340128.2:p.Ser382Cys
NM_001353200.2:c.974C>G	NP_001340129.1:p.Ser325Cys
NM_001374689.1:c.1418C>G	NP_001361618.1:p.Ser473Cys
NM_001374690.1:c.1365+364C>G	NP_001361619.1:n.1365+364C>G
NM_001374691.1:c.1079C>G	NP_001361620.1:p.Ser360Cys
NM_001374692.1:c.1079C>G	NP_001361621.1:p.Ser360Cys
NM_001374693.1:c.1079C>G	NP_001361622.1:p.Ser360Cys
NM_001374695.1:c.1040C>G	NP_001361624.1:p.Ser347Cys
NM_007171.4:c.1496C>G	NP_009102.4:p.Ser499Cys
NR_148391.2:n.1464C>G
NR_148392.2:n.1682C>G
NR_148393.2:n.1603C>G
NR_148394.2:n.1357C>G
NR_148395.2:n.1755C>G
NR_148396.2:n.1389C>G
NR_148397.2:n.1514C>G
NR_148398.2:n.1469C>G
NR_148399.2:n.1995C>G
NR_148400.2:n.1594C>G