Canonical Allele Identifier: CA375314729

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397599A>G (hg19) ; chr9:g.131522212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522212A>G , CM000671.2:g.131522212A>G	GRCh38
NC_000009.11:g.134397599A>G , CM000671.1:g.134397599A>G	GRCh37
NC_000009.10:g.133387420A>G	NCBI36
NG_008896.1:g.24311A>G
NG_008896.2:g.24311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1829A>G	ENSP00000343034.7:p.Asp610Gly
ENST00000404875.7:n.2531A>G
ENST00000423007.6:c.2048A>G	ENSP00000404119.2:p.Asp683Gly
ENST00000677295.2:c.*2335A>G	ENSP00000504346.2:n.*2335A>G
ENST00000678264.2:c.*2174A>G	ENSP00000503157.2:n.*2174A>G
ENST00000682070.1:n.2301A>G
ENST00000682813.1:n.2395A>G
ENST00000683392.1:n.4583A>G
ENST00000683712.1:n.2396A>G
ENST00000683900.1:n.3891A>G
ENST00000684062.1:n.2657A>G
ENST00000684579.1:n.3837A>G
ENST00000341012.12:c.1829A>G	ENSP00000343034.7:p.Asp610Gly
ENST00000372220.5:c.860A>G	ENSP00000361294.5:p.Asp287Gly
ENST00000372228.9:c.2057A>G	ENSP00000361302.3:p.Asp686Gly
ENST00000402686.8:c.1991A>G MANE Select	ENSP00000385797.4:p.Asp664Gly
ENST00000676640.1:c.1991A>G	ENSP00000503281.1:p.Asp664Gly
ENST00000676803.1:c.1052A>G	ENSP00000503093.1:p.Asp351Gly
ENST00000676835.1:c.*1206A>G	ENSP00000502911.1:n.*1206A>G
ENST00000677029.1:c.1535A>G	ENSP00000502936.1:p.Asp512Gly
ENST00000677099.1:c.*1701A>G	ENSP00000504553.1:n.*1701A>G
ENST00000677216.1:c.1640A>G	ENSP00000503772.1:p.Asp547Gly
ENST00000677221.1:n.1016A>G
ENST00000677295.1:c.*1213A>G	ENSP00000504346.1:n.*1213A>G
ENST00000677444.1:c.1936A>G
ENST00000677586.1:n.1358A>G
ENST00000677626.1:c.1640A>G	ENSP00000503552.1:p.Asp547Gly
ENST00000677853.1:c.*999A>G	ENSP00000503488.1:n.*999A>G
ENST00000678264.1:c.*1368A>G	ENSP00000503157.1:n.*1368A>G
ENST00000678303.1:c.1901A>G	ENSP00000503696.1:p.Asp634Gly
ENST00000678366.1:c.*2240A>G	ENSP00000504353.1:n.*2240A>G
ENST00000678546.1:c.*1936A>G	ENSP00000503062.1:n.*1936A>G
ENST00000678548.1:c.*2130A>G	ENSP00000503934.1:n.*2130A>G
ENST00000678626.1:n.1827A>G
ENST00000678739.1:c.*2157A>G	ENSP00000503806.1:n.*2157A>G
ENST00000678833.1:c.*1743A>G	ENSP00000503893.1:n.*1743A>G
ENST00000679023.1:c.1829A>G	ENSP00000503718.1:p.Asp610Gly
ENST00000679076.1:c.1610A>G
ENST00000679111.1:c.*747A>G	ENSP00000504257.1:n.*747A>G
ENST00000679189.1:c.1640A>G	ENSP00000503356.1:p.Asp547Gly
ENST00000341012.11:c.1829A>G	ENSP00000343034.7:p.Asp610Gly
ENST00000372220.4:c.854A>G	ENSP00000361294.4:p.Asp285Gly
ENST00000372228.7:c.2057A>G	ENSP00000361302.3:p.Asp686Gly
ENST00000402686.7:c.1991A>G	ENSP00000385797.3:p.Asp664Gly
ENST00000404875.6:c.1640A>G	ENSP00000384531.2:p.Asp547Gly
ENST00000423007.5:c.1991A>G	ENSP00000404119.1:p.Asp664Gly
ENST00000485278.5:n.2541A>G
ENST00000494883.1:n.534A>G
NM_001077365.1:c.1991A>G	NP_001070833.1:p.Asp664Gly
NM_001077366.1:c.1829A>G	NP_001070834.1:p.Asp610Gly
NM_001136113.1:c.1991A>G	NP_001129585.1:p.Asp664Gly
NM_001136114.1:c.1640A>G	NP_001129586.1:p.Asp547Gly
NM_007171.3:c.2057A>G	NP_009102.3:p.Asp686Gly
XM_005272156.1:c.2057A>G	XP_005272213.1:p.Asp686Gly
XM_005272158.1:c.1895A>G	XP_005272215.1:p.Asp632Gly
XM_005272159.1:c.1706A>G	XP_005272216.1:p.Asp569Gly
XM_005272162.1:c.860A>G	XP_005272219.1:p.Asp287Gly
XM_006716932.1:c.1706A>G	XP_006716995.1:p.Asp569Gly
XM_011518140.1:c.1910A>G	XP_011516442.1:p.Asp637Gly
XM_011518141.1:c.1844A>G	XP_011516443.1:p.Asp615Gly
XM_011518142.1:c.1748A>G	XP_011516444.1:p.Asp583Gly
XM_011518143.1:c.1742A>G	XP_011516445.1:p.Asp581Gly
XM_011518145.1:c.1601A>G	XP_011516447.1:p.Asp534Gly
XM_011518147.1:c.929A>G	XP_011516449.1:p.Asp310Gly
XR_929703.1:n.2233A>G
NM_001353193.1:c.2057A>G	NP_001340122.1:p.Asp686Gly
NM_001353194.1:c.1829A>G	NP_001340123.1:p.Asp610Gly
NM_001353195.1:c.1640A>G	NP_001340124.1:p.Asp547Gly
NM_001353196.1:c.1901A>G	NP_001340125.1:p.Asp634Gly
NM_001353197.1:c.1895A>G	NP_001340126.1:p.Asp632Gly
NM_001353198.1:c.1895A>G	NP_001340127.1:p.Asp632Gly
NM_001353199.1:c.1706A>G	NP_001340128.1:p.Asp569Gly
NM_001353200.1:c.1535A>G	NP_001340129.1:p.Asp512Gly
NR_148391.1:n.2041A>G
NR_148392.1:n.2259A>G
NR_148393.1:n.2180A>G
NR_148394.1:n.1934A>G
NR_148395.1:n.2332A>G
NR_148396.1:n.1966A>G
NR_148397.1:n.2091A>G
NR_148398.1:n.2046A>G
NR_148399.1:n.2572A>G
NR_148400.1:n.2171A>G
XM_005272162.3:c.860A>G	XP_005272219.1:p.Asp287Gly
XM_006716932.2:c.1706A>G	XP_006716995.1:p.Asp569Gly
XM_011518140.2:c.1910A>G	XP_011516442.1:p.Asp637Gly
XM_011518141.2:c.1844A>G	XP_011516443.1:p.Asp615Gly
XM_011518142.2:c.1748A>G	XP_011516444.1:p.Asp583Gly
XM_011518143.2:c.1742A>G	XP_011516445.1:p.Asp581Gly
XM_011518145.2:c.1601A>G	XP_011516447.1:p.Asp534Gly
XM_017014205.2:c.860A>G	XP_016869694.1:p.Asp287Gly
XM_024447380.1:c.860A>G	XP_024303148.1:p.Asp287Gly
XM_024447381.1:c.1166A>G	XP_024303149.1:p.Asp389Gly
XM_024447382.1:c.860A>G	XP_024303150.1:p.Asp287Gly
XR_001746160.2:n.2161A>G
XR_001746162.2:n.2366A>G
XR_001746164.1:n.2083A>G
XR_001746166.2:n.2378A>G
NM_001077365.2:c.1991A>G MANE Select	NP_001070833.1:p.Asp664Gly
NM_001077366.2:c.1829A>G	NP_001070834.1:p.Asp610Gly
NM_001136113.2:c.1991A>G	NP_001129585.1:p.Asp664Gly
NM_001136114.2:c.1640A>G	NP_001129586.1:p.Asp547Gly
NM_001353193.2:c.2057A>G	NP_001340122.2:p.Asp686Gly
NM_001353194.2:c.1829A>G	NP_001340123.1:p.Asp610Gly
NM_001353195.2:c.1640A>G	NP_001340124.1:p.Asp547Gly
NM_001353196.2:c.1901A>G	NP_001340125.1:p.Asp634Gly
NM_001353197.2:c.1895A>G	NP_001340126.2:p.Asp632Gly
NM_001353198.2:c.1895A>G	NP_001340127.2:p.Asp632Gly
NM_001353199.2:c.1706A>G	NP_001340128.2:p.Asp569Gly
NM_001353200.2:c.1535A>G	NP_001340129.1:p.Asp512Gly
NM_001374689.1:c.1979A>G	NP_001361618.1:p.Asp660Gly
NM_001374690.1:c.1772A>G	NP_001361619.1:p.Asp591Gly
NM_001374691.1:c.1640A>G	NP_001361620.1:p.Asp547Gly
NM_001374692.1:c.1640A>G	NP_001361621.1:p.Asp547Gly
NM_001374693.1:c.1640A>G	NP_001361622.1:p.Asp547Gly
NM_001374695.1:c.1601A>G	NP_001361624.1:p.Asp534Gly
NM_007171.4:c.2057A>G	NP_009102.4:p.Asp686Gly
NR_148391.2:n.2025A>G
NR_148392.2:n.2243A>G
NR_148393.2:n.2164A>G
NR_148394.2:n.1918A>G
NR_148395.2:n.2316A>G
NR_148396.2:n.1950A>G
NR_148397.2:n.2075A>G
NR_148398.2:n.2030A>G
NR_148399.2:n.2556A>G
NR_148400.2:n.2155A>G