Canonical Allele Identifier: CA375314576

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2933008
• ClinVar RCV Id: RCV003798174
• gnomAD v4: 9-131522172-C-T
• MyVariant Identifiers: chr9:g.134397559C>T (hg19) ; chr9:g.131522172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522172C>T , CM000671.2:g.131522172C>T	GRCh38
NC_000009.11:g.134397559C>T , CM000671.1:g.134397559C>T	GRCh37
NC_000009.10:g.133387380C>T	NCBI36
NG_008896.1:g.24271C>T
NG_008896.2:g.24271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1789C>T	ENSP00000343034.7:p.Gln597Ter
ENST00000404875.7:n.2491C>T
ENST00000423007.6:c.2008C>T	ENSP00000404119.2:p.Gln670Ter
ENST00000677295.2:c.*2295C>T	ENSP00000504346.2:n.*2295C>T
ENST00000678264.2:c.*2134C>T	ENSP00000503157.2:n.*2134C>T
ENST00000682070.1:n.2291-30C>T
ENST00000682813.1:n.2355C>T
ENST00000683392.1:n.4573-30C>T
ENST00000683712.1:n.2356C>T
ENST00000683900.1:n.3851C>T
ENST00000684062.1:n.2617C>T
ENST00000684579.1:n.3797C>T
ENST00000684679.1:n.1178C>T
ENST00000341012.12:c.1789C>T	ENSP00000343034.7:p.Gln597Ter
ENST00000372220.5:c.820C>T	ENSP00000361294.5:p.Gln274Ter
ENST00000372228.9:c.2017C>T	ENSP00000361302.3:p.Gln673Ter
ENST00000402686.8:c.1951C>T MANE Select	ENSP00000385797.4:p.Gln651Ter
ENST00000676640.1:c.1951C>T	ENSP00000503281.1:p.Gln651Ter
ENST00000676803.1:c.1012C>T	ENSP00000503093.1:p.Gln338Ter
ENST00000676835.1:c.*1166C>T	ENSP00000502911.1:n.*1166C>T
ENST00000677029.1:c.1495C>T	ENSP00000502936.1:p.Gln499Ter
ENST00000677099.1:c.*1661C>T	ENSP00000504553.1:n.*1661C>T
ENST00000677216.1:c.1600C>T	ENSP00000503772.1:p.Gln534Ter
ENST00000677221.1:n.976C>T
ENST00000677295.1:c.*1203-30C>T	ENSP00000504346.1:n.*1203-30C>T
ENST00000677444.1:c.1896C>T
ENST00000677586.1:n.1318C>T
ENST00000677626.1:c.1600C>T	ENSP00000503552.1:p.Gln534Ter
ENST00000677853.1:c.*959C>T	ENSP00000503488.1:n.*959C>T
ENST00000678202.1:n.1110C>T
ENST00000678264.1:c.*1328C>T	ENSP00000503157.1:n.*1328C>T
ENST00000678303.1:c.1861C>T	ENSP00000503696.1:p.Gln621Ter
ENST00000678366.1:c.*2200C>T	ENSP00000504353.1:n.*2200C>T
ENST00000678546.1:c.*1896C>T	ENSP00000503062.1:n.*1896C>T
ENST00000678548.1:c.*2090C>T	ENSP00000503934.1:n.*2090C>T
ENST00000678626.1:n.1787C>T
ENST00000678739.1:c.*2147-30C>T	ENSP00000503806.1:n.*2147-30C>T
ENST00000678833.1:c.*1703C>T	ENSP00000503893.1:n.*1703C>T
ENST00000679023.1:c.1789C>T	ENSP00000503718.1:p.Gln597Ter
ENST00000679076.1:c.1570C>T
ENST00000679111.1:c.*707C>T	ENSP00000504257.1:n.*707C>T
ENST00000679189.1:c.1600C>T	ENSP00000503356.1:p.Gln534Ter
ENST00000341012.11:c.1789C>T	ENSP00000343034.7:p.Gln597Ter
ENST00000372220.4:c.814C>T	ENSP00000361294.4:p.Gln272Ter
ENST00000372228.7:c.2017C>T	ENSP00000361302.3:p.Gln673Ter
ENST00000402686.7:c.1951C>T	ENSP00000385797.3:p.Gln651Ter
ENST00000404875.6:c.1600C>T	ENSP00000384531.2:p.Gln534Ter
ENST00000423007.5:c.1951C>T	ENSP00000404119.1:p.Gln651Ter
ENST00000485278.5:n.2501C>T
ENST00000494883.1:n.494C>T
NM_001077365.1:c.1951C>T	NP_001070833.1:p.Gln651Ter
NM_001077366.1:c.1789C>T	NP_001070834.1:p.Gln597Ter
NM_001136113.1:c.1951C>T	NP_001129585.1:p.Gln651Ter
NM_001136114.1:c.1600C>T	NP_001129586.1:p.Gln534Ter
NM_007171.3:c.2017C>T	NP_009102.3:p.Gln673Ter
XM_005272156.1:c.2017C>T	XP_005272213.1:p.Gln673Ter
XM_005272158.1:c.1855C>T	XP_005272215.1:p.Gln619Ter
XM_005272159.1:c.1666C>T	XP_005272216.1:p.Gln556Ter
XM_005272162.1:c.820C>T	XP_005272219.1:p.Gln274Ter
XM_006716932.1:c.1666C>T	XP_006716995.1:p.Gln556Ter
XM_011518140.1:c.1870C>T	XP_011516442.1:p.Gln624Ter
XM_011518141.1:c.1804C>T	XP_011516443.1:p.Gln602Ter
XM_011518142.1:c.1708C>T	XP_011516444.1:p.Gln570Ter
XM_011518143.1:c.1702C>T	XP_011516445.1:p.Gln568Ter
XM_011518145.1:c.1561C>T	XP_011516447.1:p.Gln521Ter
XM_011518147.1:c.889C>T	XP_011516449.1:p.Gln297Ter
XR_929703.1:n.2193C>T
NM_001353193.1:c.2017C>T	NP_001340122.1:p.Gln673Ter
NM_001353194.1:c.1789C>T	NP_001340123.1:p.Gln597Ter
NM_001353195.1:c.1600C>T	NP_001340124.1:p.Gln534Ter
NM_001353196.1:c.1861C>T	NP_001340125.1:p.Gln621Ter
NM_001353197.1:c.1855C>T	NP_001340126.1:p.Gln619Ter
NM_001353198.1:c.1855C>T	NP_001340127.1:p.Gln619Ter
NM_001353199.1:c.1666C>T	NP_001340128.1:p.Gln556Ter
NM_001353200.1:c.1495C>T	NP_001340129.1:p.Gln499Ter
NR_148391.1:n.2001C>T
NR_148392.1:n.2219C>T
NR_148393.1:n.2140C>T
NR_148394.1:n.1894C>T
NR_148395.1:n.2292C>T
NR_148396.1:n.1926C>T
NR_148397.1:n.2051C>T
NR_148398.1:n.2006C>T
NR_148399.1:n.2532C>T
NR_148400.1:n.2131C>T
XM_005272162.3:c.820C>T	XP_005272219.1:p.Gln274Ter
XM_006716932.2:c.1666C>T	XP_006716995.1:p.Gln556Ter
XM_011518140.2:c.1870C>T	XP_011516442.1:p.Gln624Ter
XM_011518141.2:c.1804C>T	XP_011516443.1:p.Gln602Ter
XM_011518142.2:c.1708C>T	XP_011516444.1:p.Gln570Ter
XM_011518143.2:c.1702C>T	XP_011516445.1:p.Gln568Ter
XM_011518145.2:c.1561C>T	XP_011516447.1:p.Gln521Ter
XM_017014205.2:c.820C>T	XP_016869694.1:p.Gln274Ter
XM_024447380.1:c.820C>T	XP_024303148.1:p.Gln274Ter
XM_024447381.1:c.1126C>T	XP_024303149.1:p.Gln376Ter
XM_024447382.1:c.820C>T	XP_024303150.1:p.Gln274Ter
XR_001746160.2:n.2121C>T
XR_001746162.2:n.2326C>T
XR_001746164.1:n.2043C>T
XR_001746166.2:n.2338C>T
NM_001077365.2:c.1951C>T MANE Select	NP_001070833.1:p.Gln651Ter
NM_001077366.2:c.1789C>T	NP_001070834.1:p.Gln597Ter
NM_001136113.2:c.1951C>T	NP_001129585.1:p.Gln651Ter
NM_001136114.2:c.1600C>T	NP_001129586.1:p.Gln534Ter
NM_001353193.2:c.2017C>T	NP_001340122.2:p.Gln673Ter
NM_001353194.2:c.1789C>T	NP_001340123.1:p.Gln597Ter
NM_001353195.2:c.1600C>T	NP_001340124.1:p.Gln534Ter
NM_001353196.2:c.1861C>T	NP_001340125.1:p.Gln621Ter
NM_001353197.2:c.1855C>T	NP_001340126.2:p.Gln619Ter
NM_001353198.2:c.1855C>T	NP_001340127.2:p.Gln619Ter
NM_001353199.2:c.1666C>T	NP_001340128.2:p.Gln556Ter
NM_001353200.2:c.1495C>T	NP_001340129.1:p.Gln499Ter
NM_001374689.1:c.1939C>T	NP_001361618.1:p.Gln647Ter
NM_001374690.1:c.1732C>T	NP_001361619.1:p.Gln578Ter
NM_001374691.1:c.1600C>T	NP_001361620.1:p.Gln534Ter
NM_001374692.1:c.1600C>T	NP_001361621.1:p.Gln534Ter
NM_001374693.1:c.1600C>T	NP_001361622.1:p.Gln534Ter
NM_001374695.1:c.1561C>T	NP_001361624.1:p.Gln521Ter
NM_007171.4:c.2017C>T	NP_009102.4:p.Gln673Ter
NR_148391.2:n.1985C>T
NR_148392.2:n.2203C>T
NR_148393.2:n.2124C>T
NR_148394.2:n.1878C>T
NR_148395.2:n.2276C>T
NR_148396.2:n.1910C>T
NR_148397.2:n.2035C>T
NR_148398.2:n.1990C>T
NR_148399.2:n.2516C>T
NR_148400.2:n.2115C>T