Canonical Allele Identifier: CA375314922

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522942-C-T
• MyVariant Identifiers: chr9:g.134398329C>T (hg19) ; chr9:g.131522942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522942C>T , CM000671.2:g.131522942C>T	GRCh38
NC_000009.11:g.134398329C>T , CM000671.1:g.134398329C>T	GRCh37
NC_000009.10:g.133388150C>T	NCBI36
NG_008896.1:g.25041C>T
NG_008896.2:g.25041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1852C>T	ENSP00000343034.7:p.Gln618Ter
ENST00000404875.7:n.2554C>T
ENST00000423007.6:c.2071C>T	ENSP00000404119.2:p.Gln691Ter
ENST00000677295.2:c.*2358C>T	ENSP00000504346.2:n.*2358C>T
ENST00000678264.2:c.*2197C>T	ENSP00000503157.2:n.*2197C>T
ENST00000682070.1:n.2324C>T
ENST00000682639.1:c.11C>T
ENST00000682813.1:n.2411C>T
ENST00000683231.1:c.11C>T
ENST00000683392.1:n.4606C>T
ENST00000683712.1:n.2419C>T
ENST00000683900.1:n.3914C>T
ENST00000684062.1:n.2680C>T
ENST00000684399.1:c.11C>T
ENST00000684579.1:n.3860C>T
ENST00000341012.12:c.1852C>T	ENSP00000343034.7:p.Gln618Ter
ENST00000372220.5:c.883C>T	ENSP00000361294.5:p.Gln295Ter
ENST00000372228.9:c.2080C>T	ENSP00000361302.3:p.Gln694Ter
ENST00000402686.8:c.2014C>T MANE Select	ENSP00000385797.4:p.Gln672Ter
ENST00000676640.1:c.2014C>T	ENSP00000503281.1:p.Gln672Ter
ENST00000676803.1:c.1075C>T	ENSP00000503093.1:p.Gln359Ter
ENST00000676835.1:c.*1229C>T	ENSP00000502911.1:n.*1229C>T
ENST00000677029.1:c.1558C>T	ENSP00000502936.1:p.Gln520Ter
ENST00000677099.1:c.*1724C>T	ENSP00000504553.1:n.*1724C>T
ENST00000677216.1:c.1663C>T	ENSP00000503772.1:p.Gln555Ter
ENST00000677221.1:n.1039C>T
ENST00000677295.1:c.*1236C>T	ENSP00000504346.1:n.*1236C>T
ENST00000677444.1:c.1959C>T
ENST00000677586.1:n.1381C>T
ENST00000677626.1:c.1663C>T	ENSP00000503552.1:p.Gln555Ter
ENST00000677853.1:c.*1022C>T	ENSP00000503488.1:n.*1022C>T
ENST00000678264.1:c.*1391C>T	ENSP00000503157.1:n.*1391C>T
ENST00000678303.1:c.1924C>T	ENSP00000503696.1:p.Gln642Ter
ENST00000678366.1:c.*2263C>T	ENSP00000504353.1:n.*2263C>T
ENST00000678546.1:c.*1959C>T	ENSP00000503062.1:n.*1959C>T
ENST00000678548.1:c.*2153C>T	ENSP00000503934.1:n.*2153C>T
ENST00000678626.1:n.1850C>T
ENST00000678739.1:c.*2180C>T	ENSP00000503806.1:n.*2180C>T
ENST00000678833.1:c.*1766C>T	ENSP00000503893.1:n.*1766C>T
ENST00000679023.1:c.1852C>T	ENSP00000503718.1:p.Gln618Ter
ENST00000679076.1:c.1633C>T
ENST00000679111.1:c.*770C>T	ENSP00000504257.1:n.*770C>T
ENST00000679189.1:c.1663C>T	ENSP00000503356.1:p.Gln555Ter
ENST00000341012.11:c.1852C>T	ENSP00000343034.7:p.Gln618Ter
ENST00000372220.4:c.877C>T	ENSP00000361294.4:p.Gln293Ter
ENST00000372228.7:c.2080C>T	ENSP00000361302.3:p.Gln694Ter
ENST00000402686.7:c.2014C>T	ENSP00000385797.3:p.Gln672Ter
ENST00000404875.6:c.1663C>T	ENSP00000384531.2:p.Gln555Ter
ENST00000423007.5:c.2014C>T	ENSP00000404119.1:p.Gln672Ter
ENST00000485278.5:n.2564C>T
NM_001077365.1:c.2014C>T	NP_001070833.1:p.Gln672Ter
NM_001077366.1:c.1852C>T	NP_001070834.1:p.Gln618Ter
NM_001136113.1:c.2014C>T	NP_001129585.1:p.Gln672Ter
NM_001136114.1:c.1663C>T	NP_001129586.1:p.Gln555Ter
NM_007171.3:c.2080C>T	NP_009102.3:p.Gln694Ter
XM_005272156.1:c.2080C>T	XP_005272213.1:p.Gln694Ter
XM_005272158.1:c.1918C>T	XP_005272215.1:p.Gln640Ter
XM_005272159.1:c.1729C>T	XP_005272216.1:p.Gln577Ter
XM_005272162.1:c.883C>T	XP_005272219.1:p.Gln295Ter
XM_006716932.1:c.1729C>T	XP_006716995.1:p.Gln577Ter
XM_011518140.1:c.1933C>T	XP_011516442.1:p.Gln645Ter
XM_011518141.1:c.1867C>T	XP_011516443.1:p.Gln623Ter
XM_011518142.1:c.1771C>T	XP_011516444.1:p.Gln591Ter
XM_011518143.1:c.1765C>T	XP_011516445.1:p.Gln589Ter
XM_011518145.1:c.1624C>T	XP_011516447.1:p.Gln542Ter
XM_011518147.1:c.952C>T	XP_011516449.1:p.Gln318Ter
XR_929703.1:n.2256C>T
NM_001353193.1:c.2080C>T	NP_001340122.1:p.Gln694Ter
NM_001353194.1:c.1852C>T	NP_001340123.1:p.Gln618Ter
NM_001353195.1:c.1663C>T	NP_001340124.1:p.Gln555Ter
NM_001353196.1:c.1924C>T	NP_001340125.1:p.Gln642Ter
NM_001353197.1:c.1918C>T	NP_001340126.1:p.Gln640Ter
NM_001353198.1:c.1918C>T	NP_001340127.1:p.Gln640Ter
NM_001353199.1:c.1729C>T	NP_001340128.1:p.Gln577Ter
NM_001353200.1:c.1558C>T	NP_001340129.1:p.Gln520Ter
NR_148391.1:n.2064C>T
NR_148392.1:n.2282C>T
NR_148393.1:n.2203C>T
NR_148394.1:n.1957C>T
NR_148395.1:n.2355C>T
NR_148396.1:n.1989C>T
NR_148397.1:n.2114C>T
NR_148398.1:n.2069C>T
NR_148399.1:n.2595C>T
NR_148400.1:n.2194C>T
XM_005272162.3:c.883C>T	XP_005272219.1:p.Gln295Ter
XM_006716932.2:c.1729C>T	XP_006716995.1:p.Gln577Ter
XM_011518140.2:c.1933C>T	XP_011516442.1:p.Gln645Ter
XM_011518141.2:c.1867C>T	XP_011516443.1:p.Gln623Ter
XM_011518142.2:c.1771C>T	XP_011516444.1:p.Gln591Ter
XM_011518143.2:c.1765C>T	XP_011516445.1:p.Gln589Ter
XM_011518145.2:c.1624C>T	XP_011516447.1:p.Gln542Ter
XM_017014205.2:c.883C>T	XP_016869694.1:p.Gln295Ter
XM_024447380.1:c.883C>T	XP_024303148.1:p.Gln295Ter
XM_024447381.1:c.1189C>T	XP_024303149.1:p.Gln397Ter
XM_024447382.1:c.883C>T	XP_024303150.1:p.Gln295Ter
XR_001746160.2:n.2184C>T
XR_001746162.2:n.2389C>T
XR_001746164.1:n.2106C>T
XR_001746166.2:n.2401C>T
NM_001077365.2:c.2014C>T MANE Select	NP_001070833.1:p.Gln672Ter
NM_001077366.2:c.1852C>T	NP_001070834.1:p.Gln618Ter
NM_001136113.2:c.2014C>T	NP_001129585.1:p.Gln672Ter
NM_001136114.2:c.1663C>T	NP_001129586.1:p.Gln555Ter
NM_001353193.2:c.2080C>T	NP_001340122.2:p.Gln694Ter
NM_001353194.2:c.1852C>T	NP_001340123.1:p.Gln618Ter
NM_001353195.2:c.1663C>T	NP_001340124.1:p.Gln555Ter
NM_001353196.2:c.1924C>T	NP_001340125.1:p.Gln642Ter
NM_001353197.2:c.1918C>T	NP_001340126.2:p.Gln640Ter
NM_001353198.2:c.1918C>T	NP_001340127.2:p.Gln640Ter
NM_001353199.2:c.1729C>T	NP_001340128.2:p.Gln577Ter
NM_001353200.2:c.1558C>T	NP_001340129.1:p.Gln520Ter
NM_001374689.1:c.2002C>T	NP_001361618.1:p.Gln668Ter
NM_001374690.1:c.1795C>T	NP_001361619.1:p.Gln599Ter
NM_001374691.1:c.1663C>T	NP_001361620.1:p.Gln555Ter
NM_001374692.1:c.1663C>T	NP_001361621.1:p.Gln555Ter
NM_001374693.1:c.1663C>T	NP_001361622.1:p.Gln555Ter
NM_001374695.1:c.1624C>T	NP_001361624.1:p.Gln542Ter
NM_007171.4:c.2080C>T	NP_009102.4:p.Gln694Ter
NR_148391.2:n.2048C>T
NR_148392.2:n.2266C>T
NR_148393.2:n.2187C>T
NR_148394.2:n.1941C>T
NR_148395.2:n.2339C>T
NR_148396.2:n.1973C>T
NR_148397.2:n.2098C>T
NR_148398.2:n.2053C>T
NR_148399.2:n.2579C>T
NR_148400.2:n.2178C>T