Canonical Allele Identifier: CA388021219

Gene: ATP7B

Linked Data

• dbSNP Id: rs1355615009
• MyVariant Identifiers: chr13:g.52511514C>T (hg19) ; chr13:g.51937378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937378C>T , CM000675.2:g.51937378C>T	GRCh38
NC_000013.10:g.52511514C>T , CM000675.1:g.52511514C>T	GRCh37
NC_000013.9:g.51409515C>T	NCBI36
NG_008806.1:g.79117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1569G>A	ENSP00000489512.2:n.*1569G>A
ENST00000673864.2:c.*2663G>A	ENSP00000501045.2:n.*2663G>A
ENST00000674147.2:c.3298G>A	ENSP00000500964.2:p.Val1100Met
ENST00000242839.10:c.3919G>A MANE Select	ENSP00000242839.5:p.Val1307Met
ENST00000344297.9:c.3298G>A	ENSP00000342559.5:p.Val1100Met
ENST00000400366.6:c.3586G>A	ENSP00000383217.3:p.Val1196Met
ENST00000448424.7:c.3667G>A	ENSP00000416738.3:p.Val1223Met
ENST00000673696.1:n.1242G>A
ENST00000673772.1:c.3685G>A	ENSP00000501168.1:p.Val1229Met
ENST00000673867.1:n.4058G>A
ENST00000673923.1:n.785G>A
ENST00000674147.1:c.2854G>A	ENSP00000500964.1:p.Val952Met
ENST00000242839.8:c.3919G>A	ENSP00000242839.4:p.Val1307Met
ENST00000344297.8:c.3298G>A	ENSP00000342559.5:p.Val1100Met
ENST00000400366.5:c.3586G>A	ENSP00000383217.3:p.Val1196Met
ENST00000400370.8:c.2629G>A	ENSP00000383221.3:p.Val877Met
ENST00000418097.7:c.3724G>A	ENSP00000393343.2:p.Val1242Met
ENST00000448424.6:c.3685G>A	ENSP00000416738.2:p.Val1229Met
ENST00000634296.1:c.1697G>A
ENST00000634308.1:c.*1020G>A	ENSP00000489234.1:n.*1020G>A
ENST00000634620.1:n.4663G>A
ENST00000634810.1:n.3264G>A
ENST00000634844.1:c.3775G>A	ENSP00000489398.1:p.Val1259Met
NM_000053.3:c.3919G>A	NP_000044.2:p.Val1307Met
NM_001005918.2:c.3298G>A	NP_001005918.1:p.Val1100Met
NM_001243182.1:c.3586G>A	NP_001230111.1:p.Val1196Met
XM_005266423.2:c.3823G>A	XP_005266480.1:p.Val1275Met
XM_005266424.3:c.3823G>A	XP_005266481.1:p.Val1275Met
XM_005266427.2:c.3685G>A	XP_005266484.1:p.Val1229Met
XM_005266428.1:c.3667G>A	XP_005266485.1:p.Val1223Met
XM_005266430.3:c.3919G>A	XP_005266487.1:p.Val1307Met
XM_005266431.2:c.3883G>A	XP_005266488.1:p.Val1295Met
XM_005266432.2:c.3433G>A	XP_005266489.1:p.Val1145Met
XM_006719837.2:c.3823G>A	XP_006719900.1:p.Val1275Met
XM_006719838.1:c.1735G>A	XP_006719901.1:p.Val579Met
XM_006719839.1:c.1552G>A	XP_006719902.1:p.Val518Met
XM_011535117.1:c.3823G>A	XP_011533419.1:p.Val1275Met
XM_011535118.1:c.3784G>A	XP_011533420.1:p.Val1262Met
XM_011535119.1:c.3736G>A	XP_011533421.1:p.Val1246Met
XM_011535120.1:c.3505G>A	XP_011533422.1:p.Val1169Met
XM_011535121.1:c.3406G>A	XP_011533423.1:p.Val1136Met
XM_011535122.1:c.2587G>A	XP_011533424.1:p.Val863Met
XR_941601.1:n.4138G>A
XR_941602.1:n.4138G>A
XR_941603.1:n.4138G>A
XR_941604.1:n.4138G>A
NM_001330578.1:c.3685G>A	NP_001317507.1:p.Val1229Met
NM_001330579.1:c.3667G>A	NP_001317508.1:p.Val1223Met
XM_005266424.4:c.3823G>A	XP_005266481.1:p.Val1275Met
XM_005266430.4:c.3919G>A	XP_005266487.1:p.Val1307Met
XM_005266431.4:c.3883G>A	XP_005266488.1:p.Val1295Met
XM_006719837.3:c.3823G>A	XP_006719900.1:p.Val1275Met
XM_011535117.3:c.3823G>A	XP_011533419.1:p.Val1275Met
XM_017020627.1:c.3823G>A	XP_016876116.1:p.Val1275Met
NM_000053.4:c.3919G>A MANE Select	NP_000044.2:p.Val1307Met
NM_001005918.3:c.3298G>A	NP_001005918.1:p.Val1100Met
NM_001330579.2:c.3667G>A	NP_001317508.1:p.Val1223Met
NM_001243182.2:c.3586G>A	NP_001230111.1:p.Val1196Met
NM_001330578.2:c.3685G>A	NP_001317507.1:p.Val1229Met