Canonical Allele Identifier: CA388030649

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518408T>C (hg19) ; chr13:g.51944272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944272T>C , CM000675.2:g.51944272T>C	GRCh38
NC_000013.10:g.52518408T>C , CM000675.1:g.52518408T>C	GRCh37
NC_000013.9:g.51416409T>C	NCBI36
NG_008806.1:g.72223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1718A>G	ENSP00000489512.2:n.*894-1718A>G
ENST00000673864.2:c.*1824A>G	ENSP00000501045.2:n.*1824A>G
ENST00000674147.2:c.2459A>G	ENSP00000500964.2:p.Asp820Gly
ENST00000242839.10:c.3080A>G MANE Select	ENSP00000242839.5:p.Asp1027Gly
ENST00000344297.9:c.2459A>G	ENSP00000342559.5:p.Asp820Gly
ENST00000400366.6:c.2747A>G	ENSP00000383217.3:p.Asp916Gly
ENST00000448424.7:c.2828A>G	ENSP00000416738.3:p.Asp943Gly
ENST00000673772.1:c.2846A>G	ENSP00000501168.1:p.Asp949Gly
ENST00000673867.1:n.3219A>G
ENST00000674126.1:n.3443A>G
ENST00000674147.1:c.2015A>G	ENSP00000500964.1:p.Asp672Gly
ENST00000242839.8:c.3080A>G	ENSP00000242839.4:p.Asp1027Gly
ENST00000344297.8:c.2459A>G	ENSP00000342559.5:p.Asp820Gly
ENST00000400366.5:c.2747A>G	ENSP00000383217.3:p.Asp916Gly
ENST00000400370.8:c.1790A>G	ENSP00000383221.3:p.Asp597Gly
ENST00000418097.7:c.2885A>G	ENSP00000393343.2:p.Asp962Gly
ENST00000448424.6:c.2846A>G	ENSP00000416738.2:p.Asp949Gly
ENST00000466629.1:n.300A>G
ENST00000634296.1:c.1022-1718A>G
ENST00000634308.1:c.*181A>G	ENSP00000489234.1:n.*181A>G
ENST00000634620.1:n.3824A>G
ENST00000634810.1:n.2425A>G
ENST00000634844.1:c.2936A>G	ENSP00000489398.1:p.Asp979Gly
ENST00000635406.1:n.426A>G
NM_000053.3:c.3080A>G	NP_000044.2:p.Asp1027Gly
NM_001005918.2:c.2459A>G	NP_001005918.1:p.Asp820Gly
NM_001243182.1:c.2747A>G	NP_001230111.1:p.Asp916Gly
XM_005266423.2:c.2984A>G	XP_005266480.1:p.Asp995Gly
XM_005266424.3:c.2984A>G	XP_005266481.1:p.Asp995Gly
XM_005266427.2:c.2846A>G	XP_005266484.1:p.Asp949Gly
XM_005266428.1:c.2828A>G	XP_005266485.1:p.Asp943Gly
XM_005266430.3:c.3080A>G	XP_005266487.1:p.Asp1027Gly
XM_005266431.2:c.3044A>G	XP_005266488.1:p.Asp1015Gly
XM_005266432.2:c.2594A>G	XP_005266489.1:p.Asp865Gly
XM_006719837.2:c.2984A>G	XP_006719900.1:p.Asp995Gly
XM_006719838.1:c.896A>G	XP_006719901.1:p.Asp299Gly
XM_006719839.1:c.877-1718A>G	XP_006719902.1:n.877-1718A>G
XM_011535117.1:c.2984A>G	XP_011533419.1:p.Asp995Gly
XM_011535118.1:c.2945A>G	XP_011533420.1:p.Asp982Gly
XM_011535119.1:c.3061-1718A>G	XP_011533421.1:n.3061-1718A>G
XM_011535120.1:c.2666A>G	XP_011533422.1:p.Asp889Gly
XM_011535121.1:c.2731-1718A>G	XP_011533423.1:n.2731-1718A>G
XM_011535122.1:c.1748A>G	XP_011533424.1:p.Asp583Gly
XR_941601.1:n.3299A>G
XR_941602.1:n.3299A>G
XR_941603.1:n.3299A>G
XR_941604.1:n.3299A>G
NM_001330578.1:c.2846A>G	NP_001317507.1:p.Asp949Gly
NM_001330579.1:c.2828A>G	NP_001317508.1:p.Asp943Gly
XM_005266424.4:c.2984A>G	XP_005266481.1:p.Asp995Gly
XM_005266430.4:c.3080A>G	XP_005266487.1:p.Asp1027Gly
XM_005266431.4:c.3044A>G	XP_005266488.1:p.Asp1015Gly
XM_006719837.3:c.2984A>G	XP_006719900.1:p.Asp995Gly
XM_011535117.3:c.2984A>G	XP_011533419.1:p.Asp995Gly
XM_017020627.1:c.2984A>G	XP_016876116.1:p.Asp995Gly
NM_000053.4:c.3080A>G MANE Select	NP_000044.2:p.Asp1027Gly
NM_001005918.3:c.2459A>G	NP_001005918.1:p.Asp820Gly
NM_001330579.2:c.2828A>G	NP_001317508.1:p.Asp943Gly
NM_001243182.2:c.2747A>G	NP_001230111.1:p.Asp916Gly
NM_001330578.2:c.2846A>G	NP_001317507.1:p.Asp949Gly