Canonical Allele Identifier: CA467424089

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397561A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1791A>G	ENSP00000343034.7:p.Gln597=
ENST00000404875.7:n.2493A>G
ENST00000423007.6:c.2010A>G	ENSP00000404119.2:p.Gln670=
ENST00000677295.2:c.*2297A>G	ENSP00000504346.2:n.*2297A>G
ENST00000678264.2:c.*2136A>G	ENSP00000503157.2:n.*2136A>G
ENST00000682070.1:n.2291-28A>G
ENST00000682813.1:n.2357A>G
ENST00000683392.1:n.4573-28A>G
ENST00000683712.1:n.2358A>G
ENST00000683900.1:n.3853A>G
ENST00000684062.1:n.2619A>G
ENST00000684579.1:n.3799A>G
ENST00000684679.1:n.1180A>G
ENST00000341012.12:c.1791A>G	ENSP00000343034.7:p.Gln597=
ENST00000372220.5:c.822A>G	ENSP00000361294.5:p.Gln274=
ENST00000372228.9:c.2019A>G	ENSP00000361302.3:p.Gln673=
ENST00000402686.8:c.1953A>G MANE Select	ENSP00000385797.4:p.Gln651=
ENST00000676640.1:c.1953A>G	ENSP00000503281.1:p.Gln651=
ENST00000676803.1:c.1014A>G	ENSP00000503093.1:p.Gln338=
ENST00000676835.1:c.*1168A>G	ENSP00000502911.1:n.*1168A>G
ENST00000677029.1:c.1497A>G	ENSP00000502936.1:p.Gln499=
ENST00000677099.1:c.*1663A>G	ENSP00000504553.1:n.*1663A>G
ENST00000677216.1:c.1602A>G	ENSP00000503772.1:p.Gln534=
ENST00000677221.1:n.978A>G
ENST00000677295.1:c.*1203-28A>G	ENSP00000504346.1:n.*1203-28A>G
ENST00000677444.1:c.1898A>G
ENST00000677586.1:n.1320A>G
ENST00000677626.1:c.1602A>G	ENSP00000503552.1:p.Gln534=
ENST00000677853.1:c.*961A>G	ENSP00000503488.1:n.*961A>G
ENST00000678202.1:n.1112A>G
ENST00000678264.1:c.*1330A>G	ENSP00000503157.1:n.*1330A>G
ENST00000678303.1:c.1863A>G	ENSP00000503696.1:p.Gln621=
ENST00000678366.1:c.*2202A>G	ENSP00000504353.1:n.*2202A>G
ENST00000678546.1:c.*1898A>G	ENSP00000503062.1:n.*1898A>G
ENST00000678548.1:c.*2092A>G	ENSP00000503934.1:n.*2092A>G
ENST00000678626.1:n.1789A>G
ENST00000678739.1:c.*2147-28A>G	ENSP00000503806.1:n.*2147-28A>G
ENST00000678833.1:c.*1705A>G	ENSP00000503893.1:n.*1705A>G
ENST00000679023.1:c.1791A>G	ENSP00000503718.1:p.Gln597=
ENST00000679076.1:c.1572A>G
ENST00000679111.1:c.*709A>G	ENSP00000504257.1:n.*709A>G
ENST00000679189.1:c.1602A>G	ENSP00000503356.1:p.Gln534=
ENST00000341012.11:c.1791A>G	ENSP00000343034.7:p.Gln597=
ENST00000372220.4:c.816A>G	ENSP00000361294.4:p.Gln272=
ENST00000372228.7:c.2019A>G	ENSP00000361302.3:p.Gln673=
ENST00000402686.7:c.1953A>G	ENSP00000385797.3:p.Gln651=
ENST00000404875.6:c.1602A>G	ENSP00000384531.2:p.Gln534=
ENST00000423007.5:c.1953A>G	ENSP00000404119.1:p.Gln651=
ENST00000485278.5:n.2503A>G
ENST00000494883.1:n.496A>G
NM_001077365.1:c.1953A>G	NP_001070833.1:p.Gln651=
NM_001077366.1:c.1791A>G	NP_001070834.1:p.Gln597=
NM_001136113.1:c.1953A>G	NP_001129585.1:p.Gln651=
NM_001136114.1:c.1602A>G	NP_001129586.1:p.Gln534=
NM_007171.3:c.2019A>G	NP_009102.3:p.Gln673=
XM_005272156.1:c.2019A>G	XP_005272213.1:p.Gln673=
XM_005272158.1:c.1857A>G	XP_005272215.1:p.Gln619=
XM_005272159.1:c.1668A>G	XP_005272216.1:p.Gln556=
XM_005272162.1:c.822A>G	XP_005272219.1:p.Gln274=
XM_006716932.1:c.1668A>G	XP_006716995.1:p.Gln556=
XM_011518140.1:c.1872A>G	XP_011516442.1:p.Gln624=
XM_011518141.1:c.1806A>G	XP_011516443.1:p.Gln602=
XM_011518142.1:c.1710A>G	XP_011516444.1:p.Gln570=
XM_011518143.1:c.1704A>G	XP_011516445.1:p.Gln568=
XM_011518145.1:c.1563A>G	XP_011516447.1:p.Gln521=
XM_011518147.1:c.891A>G	XP_011516449.1:p.Gln297=
XR_929703.1:n.2195A>G
NM_001353193.1:c.2019A>G	NP_001340122.1:p.Gln673=
NM_001353194.1:c.1791A>G	NP_001340123.1:p.Gln597=
NM_001353195.1:c.1602A>G	NP_001340124.1:p.Gln534=
NM_001353196.1:c.1863A>G	NP_001340125.1:p.Gln621=
NM_001353197.1:c.1857A>G	NP_001340126.1:p.Gln619=
NM_001353198.1:c.1857A>G	NP_001340127.1:p.Gln619=
NM_001353199.1:c.1668A>G	NP_001340128.1:p.Gln556=
NM_001353200.1:c.1497A>G	NP_001340129.1:p.Gln499=
NR_148391.1:n.2003A>G
NR_148392.1:n.2221A>G
NR_148393.1:n.2142A>G
NR_148394.1:n.1896A>G
NR_148395.1:n.2294A>G
NR_148396.1:n.1928A>G
NR_148397.1:n.2053A>G
NR_148398.1:n.2008A>G
NR_148399.1:n.2534A>G
NR_148400.1:n.2133A>G
XM_005272162.3:c.822A>G	XP_005272219.1:p.Gln274=
XM_006716932.2:c.1668A>G	XP_006716995.1:p.Gln556=
XM_011518140.2:c.1872A>G	XP_011516442.1:p.Gln624=
XM_011518141.2:c.1806A>G	XP_011516443.1:p.Gln602=
XM_011518142.2:c.1710A>G	XP_011516444.1:p.Gln570=
XM_011518143.2:c.1704A>G	XP_011516445.1:p.Gln568=
XM_011518145.2:c.1563A>G	XP_011516447.1:p.Gln521=
XM_017014205.2:c.822A>G	XP_016869694.1:p.Gln274=
XM_024447380.1:c.822A>G	XP_024303148.1:p.Gln274=
XM_024447381.1:c.1128A>G	XP_024303149.1:p.Gln376=
XM_024447382.1:c.822A>G	XP_024303150.1:p.Gln274=
XR_001746160.2:n.2123A>G
XR_001746162.2:n.2328A>G
XR_001746164.1:n.2045A>G
XR_001746166.2:n.2340A>G
NM_001077365.2:c.1953A>G MANE Select	NP_001070833.1:p.Gln651=
NM_001077366.2:c.1791A>G	NP_001070834.1:p.Gln597=
NM_001136113.2:c.1953A>G	NP_001129585.1:p.Gln651=
NM_001136114.2:c.1602A>G	NP_001129586.1:p.Gln534=
NM_001353193.2:c.2019A>G	NP_001340122.2:p.Gln673=
NM_001353194.2:c.1791A>G	NP_001340123.1:p.Gln597=
NM_001353195.2:c.1602A>G	NP_001340124.1:p.Gln534=
NM_001353196.2:c.1863A>G	NP_001340125.1:p.Gln621=
NM_001353197.2:c.1857A>G	NP_001340126.2:p.Gln619=
NM_001353198.2:c.1857A>G	NP_001340127.2:p.Gln619=
NM_001353199.2:c.1668A>G	NP_001340128.2:p.Gln556=
NM_001353200.2:c.1497A>G	NP_001340129.1:p.Gln499=
NM_001374689.1:c.1941A>G	NP_001361618.1:p.Gln647=
NM_001374690.1:c.1734A>G	NP_001361619.1:p.Gln578=
NM_001374691.1:c.1602A>G	NP_001361620.1:p.Gln534=
NM_001374692.1:c.1602A>G	NP_001361621.1:p.Gln534=
NM_001374693.1:c.1602A>G	NP_001361622.1:p.Gln534=
NM_001374695.1:c.1563A>G	NP_001361624.1:p.Gln521=
NM_007171.4:c.2019A>G	NP_009102.4:p.Gln673=
NR_148391.2:n.1987A>G
NR_148392.2:n.2205A>G
NR_148393.2:n.2126A>G
NR_148394.2:n.1880A>G
NR_148395.2:n.2278A>G
NR_148396.2:n.1912A>G
NR_148397.2:n.2037A>G
NR_148398.2:n.1992A>G
NR_148399.2:n.2518A>G
NR_148400.2:n.2117A>G