Canonical Allele Identifier: CA375315122

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398380C>G (hg19) ; chr9:g.131522993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522993C>G , CM000671.2:g.131522993C>G	GRCh38
NC_000009.11:g.134398380C>G , CM000671.1:g.134398380C>G	GRCh37
NC_000009.10:g.133388201C>G	NCBI36
NG_008896.1:g.25092C>G
NG_008896.2:g.25092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1903C>G	ENSP00000343034.7:p.His635Asp
ENST00000404875.7:n.2605C>G
ENST00000423007.6:c.2122C>G	ENSP00000404119.2:p.His708Asp
ENST00000677295.2:c.*2409C>G	ENSP00000504346.2:n.*2409C>G
ENST00000678264.2:c.*2248C>G	ENSP00000503157.2:n.*2248C>G
ENST00000682070.1:n.2375C>G
ENST00000682639.1:c.62C>G
ENST00000682813.1:n.2462C>G
ENST00000683231.1:c.62C>G
ENST00000683392.1:n.4657C>G
ENST00000683712.1:n.2470C>G
ENST00000683900.1:n.3965C>G
ENST00000684062.1:n.2731C>G
ENST00000684399.1:c.62C>G
ENST00000684579.1:n.3911C>G
ENST00000341012.12:c.1903C>G	ENSP00000343034.7:p.His635Asp
ENST00000372220.5:c.934C>G	ENSP00000361294.5:p.His312Asp
ENST00000372228.9:c.2131C>G	ENSP00000361302.3:p.His711Asp
ENST00000402686.8:c.2065C>G MANE Select	ENSP00000385797.4:p.His689Asp
ENST00000676640.1:c.2065C>G	ENSP00000503281.1:p.His689Asp
ENST00000676803.1:c.1126C>G	ENSP00000503093.1:p.His376Asp
ENST00000676835.1:c.*1280C>G	ENSP00000502911.1:n.*1280C>G
ENST00000677029.1:c.1609C>G	ENSP00000502936.1:p.His537Asp
ENST00000677099.1:c.*1775C>G	ENSP00000504553.1:n.*1775C>G
ENST00000677216.1:c.1714C>G	ENSP00000503772.1:p.His572Asp
ENST00000677221.1:n.1090C>G
ENST00000677295.1:c.*1287C>G	ENSP00000504346.1:n.*1287C>G
ENST00000677444.1:c.2010C>G
ENST00000677586.1:n.1432C>G
ENST00000677626.1:c.1714C>G	ENSP00000503552.1:p.His572Asp
ENST00000677853.1:c.*1073C>G	ENSP00000503488.1:n.*1073C>G
ENST00000678264.1:c.*1442C>G	ENSP00000503157.1:n.*1442C>G
ENST00000678303.1:c.1975C>G	ENSP00000503696.1:p.His659Asp
ENST00000678366.1:c.*2314C>G	ENSP00000504353.1:n.*2314C>G
ENST00000678546.1:c.*2010C>G	ENSP00000503062.1:n.*2010C>G
ENST00000678548.1:c.*2204C>G	ENSP00000503934.1:n.*2204C>G
ENST00000678626.1:n.1901C>G
ENST00000678739.1:c.*2231C>G	ENSP00000503806.1:n.*2231C>G
ENST00000678833.1:c.*1817C>G	ENSP00000503893.1:n.*1817C>G
ENST00000679023.1:c.1903C>G	ENSP00000503718.1:p.His635Asp
ENST00000679076.1:c.1684C>G
ENST00000679111.1:c.*821C>G	ENSP00000504257.1:n.*821C>G
ENST00000679189.1:c.1714C>G	ENSP00000503356.1:p.His572Asp
ENST00000341012.11:c.1903C>G	ENSP00000343034.7:p.His635Asp
ENST00000372220.4:c.928C>G	ENSP00000361294.4:p.His310Asp
ENST00000372228.7:c.2131C>G	ENSP00000361302.3:p.His711Asp
ENST00000402686.7:c.2065C>G	ENSP00000385797.3:p.His689Asp
ENST00000404875.6:c.1714C>G	ENSP00000384531.2:p.His572Asp
ENST00000423007.5:c.2065C>G	ENSP00000404119.1:p.His689Asp
ENST00000485278.5:n.2615C>G
NM_001077365.1:c.2065C>G	NP_001070833.1:p.His689Asp
NM_001077366.1:c.1903C>G	NP_001070834.1:p.His635Asp
NM_001136113.1:c.2065C>G	NP_001129585.1:p.His689Asp
NM_001136114.1:c.1714C>G	NP_001129586.1:p.His572Asp
NM_007171.3:c.2131C>G	NP_009102.3:p.His711Asp
XM_005272156.1:c.2131C>G	XP_005272213.1:p.His711Asp
XM_005272158.1:c.1969C>G	XP_005272215.1:p.His657Asp
XM_005272159.1:c.1780C>G	XP_005272216.1:p.His594Asp
XM_005272162.1:c.934C>G	XP_005272219.1:p.His312Asp
XM_006716932.1:c.1780C>G	XP_006716995.1:p.His594Asp
XM_011518140.1:c.1984C>G	XP_011516442.1:p.His662Asp
XM_011518141.1:c.1918C>G	XP_011516443.1:p.His640Asp
XM_011518142.1:c.1822C>G	XP_011516444.1:p.His608Asp
XM_011518143.1:c.1816C>G	XP_011516445.1:p.His606Asp
XM_011518145.1:c.1675C>G	XP_011516447.1:p.His559Asp
XM_011518147.1:c.1003C>G	XP_011516449.1:p.His335Asp
XR_929703.1:n.2307C>G
NM_001353193.1:c.2131C>G	NP_001340122.1:p.His711Asp
NM_001353194.1:c.1903C>G	NP_001340123.1:p.His635Asp
NM_001353195.1:c.1714C>G	NP_001340124.1:p.His572Asp
NM_001353196.1:c.1975C>G	NP_001340125.1:p.His659Asp
NM_001353197.1:c.1969C>G	NP_001340126.1:p.His657Asp
NM_001353198.1:c.1969C>G	NP_001340127.1:p.His657Asp
NM_001353199.1:c.1780C>G	NP_001340128.1:p.His594Asp
NM_001353200.1:c.1609C>G	NP_001340129.1:p.His537Asp
NR_148391.1:n.2115C>G
NR_148392.1:n.2333C>G
NR_148393.1:n.2254C>G
NR_148394.1:n.2008C>G
NR_148395.1:n.2406C>G
NR_148396.1:n.2040C>G
NR_148397.1:n.2165C>G
NR_148398.1:n.2120C>G
NR_148399.1:n.2646C>G
NR_148400.1:n.2245C>G
XM_005272162.3:c.934C>G	XP_005272219.1:p.His312Asp
XM_006716932.2:c.1780C>G	XP_006716995.1:p.His594Asp
XM_011518140.2:c.1984C>G	XP_011516442.1:p.His662Asp
XM_011518141.2:c.1918C>G	XP_011516443.1:p.His640Asp
XM_011518142.2:c.1822C>G	XP_011516444.1:p.His608Asp
XM_011518143.2:c.1816C>G	XP_011516445.1:p.His606Asp
XM_011518145.2:c.1675C>G	XP_011516447.1:p.His559Asp
XM_017014205.2:c.934C>G	XP_016869694.1:p.His312Asp
XM_024447380.1:c.934C>G	XP_024303148.1:p.His312Asp
XM_024447381.1:c.1240C>G	XP_024303149.1:p.His414Asp
XM_024447382.1:c.934C>G	XP_024303150.1:p.His312Asp
XR_001746160.2:n.2235C>G
XR_001746162.2:n.2440C>G
XR_001746164.1:n.2157C>G
XR_001746166.2:n.2452C>G
NM_001077365.2:c.2065C>G MANE Select	NP_001070833.1:p.His689Asp
NM_001077366.2:c.1903C>G	NP_001070834.1:p.His635Asp
NM_001136113.2:c.2065C>G	NP_001129585.1:p.His689Asp
NM_001136114.2:c.1714C>G	NP_001129586.1:p.His572Asp
NM_001353193.2:c.2131C>G	NP_001340122.2:p.His711Asp
NM_001353194.2:c.1903C>G	NP_001340123.1:p.His635Asp
NM_001353195.2:c.1714C>G	NP_001340124.1:p.His572Asp
NM_001353196.2:c.1975C>G	NP_001340125.1:p.His659Asp
NM_001353197.2:c.1969C>G	NP_001340126.2:p.His657Asp
NM_001353198.2:c.1969C>G	NP_001340127.2:p.His657Asp
NM_001353199.2:c.1780C>G	NP_001340128.2:p.His594Asp
NM_001353200.2:c.1609C>G	NP_001340129.1:p.His537Asp
NM_001374689.1:c.2053C>G	NP_001361618.1:p.His685Asp
NM_001374690.1:c.1846C>G	NP_001361619.1:p.His616Asp
NM_001374691.1:c.1714C>G	NP_001361620.1:p.His572Asp
NM_001374692.1:c.1714C>G	NP_001361621.1:p.His572Asp
NM_001374693.1:c.1714C>G	NP_001361622.1:p.His572Asp
NM_001374695.1:c.1675C>G	NP_001361624.1:p.His559Asp
NM_007171.4:c.2131C>G	NP_009102.4:p.His711Asp
NR_148391.2:n.2099C>G
NR_148392.2:n.2317C>G
NR_148393.2:n.2238C>G
NR_148394.2:n.1992C>G
NR_148395.2:n.2390C>G
NR_148396.2:n.2024C>G
NR_148397.2:n.2149C>G
NR_148398.2:n.2104C>G
NR_148399.2:n.2630C>G
NR_148400.2:n.2229C>G