Canonical Allele Identifier: CA375314584

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397561A>C (hg19) ; chr9:g.131522174A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522174A>C , CM000671.2:g.131522174A>C	GRCh38
NC_000009.11:g.134397561A>C , CM000671.1:g.134397561A>C	GRCh37
NC_000009.10:g.133387382A>C	NCBI36
NG_008896.1:g.24273A>C
NG_008896.2:g.24273A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1791A>C	ENSP00000343034.7:p.Gln597His
ENST00000404875.7:n.2493A>C
ENST00000423007.6:c.2010A>C	ENSP00000404119.2:p.Gln670His
ENST00000677295.2:c.*2297A>C	ENSP00000504346.2:n.*2297A>C
ENST00000678264.2:c.*2136A>C	ENSP00000503157.2:n.*2136A>C
ENST00000682070.1:n.2291-28A>C
ENST00000682813.1:n.2357A>C
ENST00000683392.1:n.4573-28A>C
ENST00000683712.1:n.2358A>C
ENST00000683900.1:n.3853A>C
ENST00000684062.1:n.2619A>C
ENST00000684579.1:n.3799A>C
ENST00000684679.1:n.1180A>C
ENST00000341012.12:c.1791A>C	ENSP00000343034.7:p.Gln597His
ENST00000372220.5:c.822A>C	ENSP00000361294.5:p.Gln274His
ENST00000372228.9:c.2019A>C	ENSP00000361302.3:p.Gln673His
ENST00000402686.8:c.1953A>C MANE Select	ENSP00000385797.4:p.Gln651His
ENST00000676640.1:c.1953A>C	ENSP00000503281.1:p.Gln651His
ENST00000676803.1:c.1014A>C	ENSP00000503093.1:p.Gln338His
ENST00000676835.1:c.*1168A>C	ENSP00000502911.1:n.*1168A>C
ENST00000677029.1:c.1497A>C	ENSP00000502936.1:p.Gln499His
ENST00000677099.1:c.*1663A>C	ENSP00000504553.1:n.*1663A>C
ENST00000677216.1:c.1602A>C	ENSP00000503772.1:p.Gln534His
ENST00000677221.1:n.978A>C
ENST00000677295.1:c.*1203-28A>C	ENSP00000504346.1:n.*1203-28A>C
ENST00000677444.1:c.1898A>C
ENST00000677586.1:n.1320A>C
ENST00000677626.1:c.1602A>C	ENSP00000503552.1:p.Gln534His
ENST00000677853.1:c.*961A>C	ENSP00000503488.1:n.*961A>C
ENST00000678202.1:n.1112A>C
ENST00000678264.1:c.*1330A>C	ENSP00000503157.1:n.*1330A>C
ENST00000678303.1:c.1863A>C	ENSP00000503696.1:p.Gln621His
ENST00000678366.1:c.*2202A>C	ENSP00000504353.1:n.*2202A>C
ENST00000678546.1:c.*1898A>C	ENSP00000503062.1:n.*1898A>C
ENST00000678548.1:c.*2092A>C	ENSP00000503934.1:n.*2092A>C
ENST00000678626.1:n.1789A>C
ENST00000678739.1:c.*2147-28A>C	ENSP00000503806.1:n.*2147-28A>C
ENST00000678833.1:c.*1705A>C	ENSP00000503893.1:n.*1705A>C
ENST00000679023.1:c.1791A>C	ENSP00000503718.1:p.Gln597His
ENST00000679076.1:c.1572A>C
ENST00000679111.1:c.*709A>C	ENSP00000504257.1:n.*709A>C
ENST00000679189.1:c.1602A>C	ENSP00000503356.1:p.Gln534His
ENST00000341012.11:c.1791A>C	ENSP00000343034.7:p.Gln597His
ENST00000372220.4:c.816A>C	ENSP00000361294.4:p.Gln272His
ENST00000372228.7:c.2019A>C	ENSP00000361302.3:p.Gln673His
ENST00000402686.7:c.1953A>C	ENSP00000385797.3:p.Gln651His
ENST00000404875.6:c.1602A>C	ENSP00000384531.2:p.Gln534His
ENST00000423007.5:c.1953A>C	ENSP00000404119.1:p.Gln651His
ENST00000485278.5:n.2503A>C
ENST00000494883.1:n.496A>C
NM_001077365.1:c.1953A>C	NP_001070833.1:p.Gln651His
NM_001077366.1:c.1791A>C	NP_001070834.1:p.Gln597His
NM_001136113.1:c.1953A>C	NP_001129585.1:p.Gln651His
NM_001136114.1:c.1602A>C	NP_001129586.1:p.Gln534His
NM_007171.3:c.2019A>C	NP_009102.3:p.Gln673His
XM_005272156.1:c.2019A>C	XP_005272213.1:p.Gln673His
XM_005272158.1:c.1857A>C	XP_005272215.1:p.Gln619His
XM_005272159.1:c.1668A>C	XP_005272216.1:p.Gln556His
XM_005272162.1:c.822A>C	XP_005272219.1:p.Gln274His
XM_006716932.1:c.1668A>C	XP_006716995.1:p.Gln556His
XM_011518140.1:c.1872A>C	XP_011516442.1:p.Gln624His
XM_011518141.1:c.1806A>C	XP_011516443.1:p.Gln602His
XM_011518142.1:c.1710A>C	XP_011516444.1:p.Gln570His
XM_011518143.1:c.1704A>C	XP_011516445.1:p.Gln568His
XM_011518145.1:c.1563A>C	XP_011516447.1:p.Gln521His
XM_011518147.1:c.891A>C	XP_011516449.1:p.Gln297His
XR_929703.1:n.2195A>C
NM_001353193.1:c.2019A>C	NP_001340122.1:p.Gln673His
NM_001353194.1:c.1791A>C	NP_001340123.1:p.Gln597His
NM_001353195.1:c.1602A>C	NP_001340124.1:p.Gln534His
NM_001353196.1:c.1863A>C	NP_001340125.1:p.Gln621His
NM_001353197.1:c.1857A>C	NP_001340126.1:p.Gln619His
NM_001353198.1:c.1857A>C	NP_001340127.1:p.Gln619His
NM_001353199.1:c.1668A>C	NP_001340128.1:p.Gln556His
NM_001353200.1:c.1497A>C	NP_001340129.1:p.Gln499His
NR_148391.1:n.2003A>C
NR_148392.1:n.2221A>C
NR_148393.1:n.2142A>C
NR_148394.1:n.1896A>C
NR_148395.1:n.2294A>C
NR_148396.1:n.1928A>C
NR_148397.1:n.2053A>C
NR_148398.1:n.2008A>C
NR_148399.1:n.2534A>C
NR_148400.1:n.2133A>C
XM_005272162.3:c.822A>C	XP_005272219.1:p.Gln274His
XM_006716932.2:c.1668A>C	XP_006716995.1:p.Gln556His
XM_011518140.2:c.1872A>C	XP_011516442.1:p.Gln624His
XM_011518141.2:c.1806A>C	XP_011516443.1:p.Gln602His
XM_011518142.2:c.1710A>C	XP_011516444.1:p.Gln570His
XM_011518143.2:c.1704A>C	XP_011516445.1:p.Gln568His
XM_011518145.2:c.1563A>C	XP_011516447.1:p.Gln521His
XM_017014205.2:c.822A>C	XP_016869694.1:p.Gln274His
XM_024447380.1:c.822A>C	XP_024303148.1:p.Gln274His
XM_024447381.1:c.1128A>C	XP_024303149.1:p.Gln376His
XM_024447382.1:c.822A>C	XP_024303150.1:p.Gln274His
XR_001746160.2:n.2123A>C
XR_001746162.2:n.2328A>C
XR_001746164.1:n.2045A>C
XR_001746166.2:n.2340A>C
NM_001077365.2:c.1953A>C MANE Select	NP_001070833.1:p.Gln651His
NM_001077366.2:c.1791A>C	NP_001070834.1:p.Gln597His
NM_001136113.2:c.1953A>C	NP_001129585.1:p.Gln651His
NM_001136114.2:c.1602A>C	NP_001129586.1:p.Gln534His
NM_001353193.2:c.2019A>C	NP_001340122.2:p.Gln673His
NM_001353194.2:c.1791A>C	NP_001340123.1:p.Gln597His
NM_001353195.2:c.1602A>C	NP_001340124.1:p.Gln534His
NM_001353196.2:c.1863A>C	NP_001340125.1:p.Gln621His
NM_001353197.2:c.1857A>C	NP_001340126.2:p.Gln619His
NM_001353198.2:c.1857A>C	NP_001340127.2:p.Gln619His
NM_001353199.2:c.1668A>C	NP_001340128.2:p.Gln556His
NM_001353200.2:c.1497A>C	NP_001340129.1:p.Gln499His
NM_001374689.1:c.1941A>C	NP_001361618.1:p.Gln647His
NM_001374690.1:c.1734A>C	NP_001361619.1:p.Gln578His
NM_001374691.1:c.1602A>C	NP_001361620.1:p.Gln534His
NM_001374692.1:c.1602A>C	NP_001361621.1:p.Gln534His
NM_001374693.1:c.1602A>C	NP_001361622.1:p.Gln534His
NM_001374695.1:c.1563A>C	NP_001361624.1:p.Gln521His
NM_007171.4:c.2019A>C	NP_009102.4:p.Gln673His
NR_148391.2:n.1987A>C
NR_148392.2:n.2205A>C
NR_148393.2:n.2126A>C
NR_148394.2:n.1880A>C
NR_148395.2:n.2278A>C
NR_148396.2:n.1912A>C
NR_148397.2:n.2037A>C
NR_148398.2:n.1992A>C
NR_148399.2:n.2518A>C
NR_148400.2:n.2117A>C