Canonical Allele Identifier: CA483894765

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957519289
• MyVariant Identifiers: chr13:g.52518410A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944274A>G , CM000675.2:g.51944274A>G	GRCh38
NC_000013.10:g.52518410A>G , CM000675.1:g.52518410A>G	GRCh37
NC_000013.9:g.51416411A>G	NCBI36
NG_008806.1:g.72221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1720T>C	ENSP00000489512.2:n.*894-1720T>C
ENST00000673864.2:c.*1822T>C	ENSP00000501045.2:n.*1822T>C
ENST00000674147.2:c.2457T>C	ENSP00000500964.2:p.Phe819=
ENST00000242839.10:c.3078T>C MANE Select	ENSP00000242839.5:p.Phe1026=
ENST00000344297.9:c.2457T>C	ENSP00000342559.5:p.Phe819=
ENST00000400366.6:c.2745T>C	ENSP00000383217.3:p.Phe915=
ENST00000448424.7:c.2826T>C	ENSP00000416738.3:p.Phe942=
ENST00000673772.1:c.2844T>C	ENSP00000501168.1:p.Phe948=
ENST00000673867.1:n.3217T>C
ENST00000674126.1:n.3441T>C
ENST00000674147.1:c.2013T>C	ENSP00000500964.1:p.Phe671=
ENST00000242839.8:c.3078T>C	ENSP00000242839.4:p.Phe1026=
ENST00000344297.8:c.2457T>C	ENSP00000342559.5:p.Phe819=
ENST00000400366.5:c.2745T>C	ENSP00000383217.3:p.Phe915=
ENST00000400370.8:c.1788T>C	ENSP00000383221.3:p.Phe596=
ENST00000418097.7:c.2883T>C	ENSP00000393343.2:p.Phe961=
ENST00000448424.6:c.2844T>C	ENSP00000416738.2:p.Phe948=
ENST00000466629.1:n.298T>C
ENST00000634296.1:c.1022-1720T>C
ENST00000634308.1:c.*179T>C	ENSP00000489234.1:n.*179T>C
ENST00000634620.1:n.3822T>C
ENST00000634810.1:n.2423T>C
ENST00000634844.1:c.2934T>C	ENSP00000489398.1:p.Phe978=
ENST00000635406.1:n.424T>C
NM_000053.3:c.3078T>C	NP_000044.2:p.Phe1026=
NM_001005918.2:c.2457T>C	NP_001005918.1:p.Phe819=
NM_001243182.1:c.2745T>C	NP_001230111.1:p.Phe915=
XM_005266423.2:c.2982T>C	XP_005266480.1:p.Phe994=
XM_005266424.3:c.2982T>C	XP_005266481.1:p.Phe994=
XM_005266427.2:c.2844T>C	XP_005266484.1:p.Phe948=
XM_005266428.1:c.2826T>C	XP_005266485.1:p.Phe942=
XM_005266430.3:c.3078T>C	XP_005266487.1:p.Phe1026=
XM_005266431.2:c.3042T>C	XP_005266488.1:p.Phe1014=
XM_005266432.2:c.2592T>C	XP_005266489.1:p.Phe864=
XM_006719837.2:c.2982T>C	XP_006719900.1:p.Phe994=
XM_006719838.1:c.894T>C	XP_006719901.1:p.Phe298=
XM_006719839.1:c.877-1720T>C	XP_006719902.1:n.877-1720T>C
XM_011535117.1:c.2982T>C	XP_011533419.1:p.Phe994=
XM_011535118.1:c.2943T>C	XP_011533420.1:p.Phe981=
XM_011535119.1:c.3061-1720T>C	XP_011533421.1:n.3061-1720T>C
XM_011535120.1:c.2664T>C	XP_011533422.1:p.Phe888=
XM_011535121.1:c.2731-1720T>C	XP_011533423.1:n.2731-1720T>C
XM_011535122.1:c.1746T>C	XP_011533424.1:p.Phe582=
XR_941601.1:n.3297T>C
XR_941602.1:n.3297T>C
XR_941603.1:n.3297T>C
XR_941604.1:n.3297T>C
NM_001330578.1:c.2844T>C	NP_001317507.1:p.Phe948=
NM_001330579.1:c.2826T>C	NP_001317508.1:p.Phe942=
XM_005266424.4:c.2982T>C	XP_005266481.1:p.Phe994=
XM_005266430.4:c.3078T>C	XP_005266487.1:p.Phe1026=
XM_005266431.4:c.3042T>C	XP_005266488.1:p.Phe1014=
XM_006719837.3:c.2982T>C	XP_006719900.1:p.Phe994=
XM_011535117.3:c.2982T>C	XP_011533419.1:p.Phe994=
XM_017020627.1:c.2982T>C	XP_016876116.1:p.Phe994=
NM_000053.4:c.3078T>C MANE Select	NP_000044.2:p.Phe1026=
NM_001005918.3:c.2457T>C	NP_001005918.1:p.Phe819=
NM_001330579.2:c.2826T>C	NP_001317508.1:p.Phe942=
NM_001243182.2:c.2745T>C	NP_001230111.1:p.Phe915=
NM_001330578.2:c.2844T>C	NP_001317507.1:p.Phe948=