Canonical Allele Identifier: CA483894950

Gene: ATP7B

Linked Data

• dbSNP Id: rs2139056741
• MyVariant Identifiers: chr13:g.52520519C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946383C>G , CM000675.2:g.51946383C>G	GRCh38
NC_000013.10:g.52520519C>G , CM000675.1:g.52520519C>G	GRCh37
NC_000013.9:g.51418520C>G	NCBI36
NG_008806.1:g.70112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*794G>C	ENSP00000489512.2:n.*794G>C
ENST00000673864.2:c.*1705G>C	ENSP00000501045.2:n.*1705G>C
ENST00000674147.2:c.2340G>C	ENSP00000500964.2:p.Leu780=
ENST00000242839.10:c.2961G>C MANE Select	ENSP00000242839.5:p.Leu987=
ENST00000344297.9:c.2340G>C	ENSP00000342559.5:p.Leu780=
ENST00000400366.6:c.2628G>C	ENSP00000383217.3:p.Leu876=
ENST00000448424.7:c.2709G>C	ENSP00000416738.3:p.Leu903=
ENST00000673772.1:c.2727G>C	ENSP00000501168.1:p.Leu909=
ENST00000673867.1:n.1108G>C
ENST00000674126.1:n.3324G>C
ENST00000674147.1:c.1896G>C	ENSP00000500964.1:p.Leu632=
ENST00000242839.8:c.2961G>C	ENSP00000242839.4:p.Leu987=
ENST00000344297.8:c.2340G>C	ENSP00000342559.5:p.Leu780=
ENST00000400366.5:c.2628G>C	ENSP00000383217.3:p.Leu876=
ENST00000400370.8:c.1671G>C	ENSP00000383221.3:p.Leu557=
ENST00000418097.7:c.2866-2092G>C	ENSP00000393343.2:n.2866-2092G>C
ENST00000448424.6:c.2727G>C	ENSP00000416738.2:p.Leu909=
ENST00000466629.1:n.181G>C
ENST00000634296.1:c.922G>C
ENST00000634308.1:c.*62G>C	ENSP00000489234.1:n.*62G>C
ENST00000634620.1:n.3705G>C
ENST00000634810.1:n.2306G>C
ENST00000634844.1:c.2817G>C	ENSP00000489398.1:p.Leu939=
ENST00000635406.1:n.307G>C
NM_000053.3:c.2961G>C	NP_000044.2:p.Leu987=
NM_001005918.2:c.2340G>C	NP_001005918.1:p.Leu780=
NM_001243182.1:c.2628G>C	NP_001230111.1:p.Leu876=
XM_005266423.2:c.2865G>C	XP_005266480.1:p.Leu955=
XM_005266424.3:c.2865G>C	XP_005266481.1:p.Leu955=
XM_005266427.2:c.2727G>C	XP_005266484.1:p.Leu909=
XM_005266428.1:c.2709G>C	XP_005266485.1:p.Leu903=
XM_005266430.3:c.2961G>C	XP_005266487.1:p.Leu987=
XM_005266431.2:c.2925G>C	XP_005266488.1:p.Leu975=
XM_005266432.2:c.2475G>C	XP_005266489.1:p.Leu825=
XM_006719837.2:c.2865G>C	XP_006719900.1:p.Leu955=
XM_006719838.1:c.777G>C	XP_006719901.1:p.Leu259=
XM_006719839.1:c.777G>C	XP_006719902.1:p.Leu259=
XM_011535117.1:c.2865G>C	XP_011533419.1:p.Leu955=
XM_011535118.1:c.2826G>C	XP_011533420.1:p.Leu942=
XM_011535119.1:c.2961G>C	XP_011533421.1:p.Leu987=
XM_011535120.1:c.2547G>C	XP_011533422.1:p.Leu849=
XM_011535121.1:c.2730+3624G>C	XP_011533423.1:n.2730+3624G>C
XM_011535122.1:c.1629G>C	XP_011533424.1:p.Leu543=
XR_941601.1:n.3180G>C
XR_941602.1:n.3180G>C
XR_941603.1:n.3180G>C
XR_941604.1:n.3180G>C
NM_001330578.1:c.2727G>C	NP_001317507.1:p.Leu909=
NM_001330579.1:c.2709G>C	NP_001317508.1:p.Leu903=
XM_005266424.4:c.2865G>C	XP_005266481.1:p.Leu955=
XM_005266430.4:c.2961G>C	XP_005266487.1:p.Leu987=
XM_005266431.4:c.2925G>C	XP_005266488.1:p.Leu975=
XM_006719837.3:c.2865G>C	XP_006719900.1:p.Leu955=
XM_011535117.3:c.2865G>C	XP_011533419.1:p.Leu955=
XM_017020627.1:c.2865G>C	XP_016876116.1:p.Leu955=
NM_000053.4:c.2961G>C MANE Select	NP_000044.2:p.Leu987=
NM_001005918.3:c.2340G>C	NP_001005918.1:p.Leu780=
NM_001330579.2:c.2709G>C	NP_001317508.1:p.Leu903=
NM_001243182.2:c.2628G>C	NP_001230111.1:p.Leu876=
NM_001330578.2:c.2727G>C	NP_001317507.1:p.Leu909=