Canonical Allele Identifier: CA250080182

Gene: ATP7B

Linked Data

• dbSNP Id: rs955104750
• gnomAD v3: 13-51944200-A-C
• gnomAD v4: 13-51944200-A-C
• MyVariant Identifiers: chr13:g.52518336A>C (hg19) ; chr13:g.51944200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944200A>C , CM000675.2:g.51944200A>C	GRCh38
NC_000013.10:g.52518336A>C , CM000675.1:g.52518336A>C	GRCh37
NC_000013.9:g.51416337A>C	NCBI36
NG_008806.1:g.72295T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1646T>G	ENSP00000489512.2:n.*894-1646T>G
ENST00000673864.2:c.*1896T>G	ENSP00000501045.2:n.*1896T>G
ENST00000674147.2:c.2531T>G	ENSP00000500964.2:p.Leu844Arg
ENST00000242839.10:c.3152T>G MANE Select	ENSP00000242839.5:p.Leu1051Arg
ENST00000344297.9:c.2531T>G	ENSP00000342559.5:p.Leu844Arg
ENST00000400366.6:c.2819T>G	ENSP00000383217.3:p.Leu940Arg
ENST00000448424.7:c.2900T>G	ENSP00000416738.3:p.Leu967Arg
ENST00000673772.1:c.2918T>G	ENSP00000501168.1:p.Leu973Arg
ENST00000673867.1:n.3291T>G
ENST00000674126.1:n.3515T>G
ENST00000674147.1:c.2087T>G	ENSP00000500964.1:p.Leu696Arg
ENST00000242839.8:c.3152T>G	ENSP00000242839.4:p.Leu1051Arg
ENST00000344297.8:c.2531T>G	ENSP00000342559.5:p.Leu844Arg
ENST00000400366.5:c.2819T>G	ENSP00000383217.3:p.Leu940Arg
ENST00000400370.8:c.1862T>G	ENSP00000383221.3:p.Leu621Arg
ENST00000418097.7:c.2957T>G	ENSP00000393343.2:p.Leu986Arg
ENST00000448424.6:c.2918T>G	ENSP00000416738.2:p.Leu973Arg
ENST00000466629.1:n.372T>G
ENST00000634296.1:c.1022-1646T>G
ENST00000634308.1:c.*253T>G	ENSP00000489234.1:n.*253T>G
ENST00000634620.1:n.3896T>G
ENST00000634810.1:n.2497T>G
ENST00000634844.1:c.3008T>G	ENSP00000489398.1:p.Leu1003Arg
ENST00000635406.1:n.498T>G
NM_000053.3:c.3152T>G	NP_000044.2:p.Leu1051Arg
NM_001005918.2:c.2531T>G	NP_001005918.1:p.Leu844Arg
NM_001243182.1:c.2819T>G	NP_001230111.1:p.Leu940Arg
XM_005266423.2:c.3056T>G	XP_005266480.1:p.Leu1019Arg
XM_005266424.3:c.3056T>G	XP_005266481.1:p.Leu1019Arg
XM_005266427.2:c.2918T>G	XP_005266484.1:p.Leu973Arg
XM_005266428.1:c.2900T>G	XP_005266485.1:p.Leu967Arg
XM_005266430.3:c.3152T>G	XP_005266487.1:p.Leu1051Arg
XM_005266431.2:c.3116T>G	XP_005266488.1:p.Leu1039Arg
XM_005266432.2:c.2666T>G	XP_005266489.1:p.Leu889Arg
XM_006719837.2:c.3056T>G	XP_006719900.1:p.Leu1019Arg
XM_006719838.1:c.968T>G	XP_006719901.1:p.Leu323Arg
XM_006719839.1:c.877-1646T>G	XP_006719902.1:n.877-1646T>G
XM_011535117.1:c.3056T>G	XP_011533419.1:p.Leu1019Arg
XM_011535118.1:c.3017T>G	XP_011533420.1:p.Leu1006Arg
XM_011535119.1:c.3061-1646T>G	XP_011533421.1:n.3061-1646T>G
XM_011535120.1:c.2738T>G	XP_011533422.1:p.Leu913Arg
XM_011535121.1:c.2731-1646T>G	XP_011533423.1:n.2731-1646T>G
XM_011535122.1:c.1820T>G	XP_011533424.1:p.Leu607Arg
XR_941601.1:n.3371T>G
XR_941602.1:n.3371T>G
XR_941603.1:n.3371T>G
XR_941604.1:n.3371T>G
NM_001330578.1:c.2918T>G	NP_001317507.1:p.Leu973Arg
NM_001330579.1:c.2900T>G	NP_001317508.1:p.Leu967Arg
XM_005266424.4:c.3056T>G	XP_005266481.1:p.Leu1019Arg
XM_005266430.4:c.3152T>G	XP_005266487.1:p.Leu1051Arg
XM_005266431.4:c.3116T>G	XP_005266488.1:p.Leu1039Arg
XM_006719837.3:c.3056T>G	XP_006719900.1:p.Leu1019Arg
XM_011535117.3:c.3056T>G	XP_011533419.1:p.Leu1019Arg
XM_017020627.1:c.3056T>G	XP_016876116.1:p.Leu1019Arg
NM_000053.4:c.3152T>G MANE Select	NP_000044.2:p.Leu1051Arg
NM_001005918.3:c.2531T>G	NP_001005918.1:p.Leu844Arg
NM_001330579.2:c.2900T>G	NP_001317508.1:p.Leu967Arg
NM_001243182.2:c.2819T>G	NP_001230111.1:p.Leu940Arg
NM_001330578.2:c.2918T>G	NP_001317507.1:p.Leu973Arg