Canonical Allele Identifier: CA388030185

Gene: ATP7B

Linked Data

• dbSNP Id: rs1464252261
• gnomAD v2: 13-52518346-C-A
• gnomAD v4: 13-51944210-C-A
• MyVariant Identifiers: chr13:g.52518346C>A (hg19) ; chr13:g.51944210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944210C>A , CM000675.2:g.51944210C>A	GRCh38
NC_000013.10:g.52518346C>A , CM000675.1:g.52518346C>A	GRCh37
NC_000013.9:g.51416347C>A	NCBI36
NG_008806.1:g.72285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1656G>T	ENSP00000489512.2:n.*894-1656G>T
ENST00000673864.2:c.*1886G>T	ENSP00000501045.2:n.*1886G>T
ENST00000674147.2:c.2521G>T	ENSP00000500964.2:p.Val841Leu
ENST00000242839.10:c.3142G>T MANE Select	ENSP00000242839.5:p.Val1048Leu
ENST00000344297.9:c.2521G>T	ENSP00000342559.5:p.Val841Leu
ENST00000400366.6:c.2809G>T	ENSP00000383217.3:p.Val937Leu
ENST00000448424.7:c.2890G>T	ENSP00000416738.3:p.Val964Leu
ENST00000673772.1:c.2908G>T	ENSP00000501168.1:p.Val970Leu
ENST00000673867.1:n.3281G>T
ENST00000674126.1:n.3505G>T
ENST00000674147.1:c.2077G>T	ENSP00000500964.1:p.Val693Leu
ENST00000242839.8:c.3142G>T	ENSP00000242839.4:p.Val1048Leu
ENST00000344297.8:c.2521G>T	ENSP00000342559.5:p.Val841Leu
ENST00000400366.5:c.2809G>T	ENSP00000383217.3:p.Val937Leu
ENST00000400370.8:c.1852G>T	ENSP00000383221.3:p.Val618Leu
ENST00000418097.7:c.2947G>T	ENSP00000393343.2:p.Val983Leu
ENST00000448424.6:c.2908G>T	ENSP00000416738.2:p.Val970Leu
ENST00000466629.1:n.362G>T
ENST00000634296.1:c.1022-1656G>T
ENST00000634308.1:c.*243G>T	ENSP00000489234.1:n.*243G>T
ENST00000634620.1:n.3886G>T
ENST00000634810.1:n.2487G>T
ENST00000634844.1:c.2998G>T	ENSP00000489398.1:p.Val1000Leu
ENST00000635406.1:n.488G>T
NM_000053.3:c.3142G>T	NP_000044.2:p.Val1048Leu
NM_001005918.2:c.2521G>T	NP_001005918.1:p.Val841Leu
NM_001243182.1:c.2809G>T	NP_001230111.1:p.Val937Leu
XM_005266423.2:c.3046G>T	XP_005266480.1:p.Val1016Leu
XM_005266424.3:c.3046G>T	XP_005266481.1:p.Val1016Leu
XM_005266427.2:c.2908G>T	XP_005266484.1:p.Val970Leu
XM_005266428.1:c.2890G>T	XP_005266485.1:p.Val964Leu
XM_005266430.3:c.3142G>T	XP_005266487.1:p.Val1048Leu
XM_005266431.2:c.3106G>T	XP_005266488.1:p.Val1036Leu
XM_005266432.2:c.2656G>T	XP_005266489.1:p.Val886Leu
XM_006719837.2:c.3046G>T	XP_006719900.1:p.Val1016Leu
XM_006719838.1:c.958G>T	XP_006719901.1:p.Val320Leu
XM_006719839.1:c.877-1656G>T	XP_006719902.1:n.877-1656G>T
XM_011535117.1:c.3046G>T	XP_011533419.1:p.Val1016Leu
XM_011535118.1:c.3007G>T	XP_011533420.1:p.Val1003Leu
XM_011535119.1:c.3061-1656G>T	XP_011533421.1:n.3061-1656G>T
XM_011535120.1:c.2728G>T	XP_011533422.1:p.Val910Leu
XM_011535121.1:c.2731-1656G>T	XP_011533423.1:n.2731-1656G>T
XM_011535122.1:c.1810G>T	XP_011533424.1:p.Val604Leu
XR_941601.1:n.3361G>T
XR_941602.1:n.3361G>T
XR_941603.1:n.3361G>T
XR_941604.1:n.3361G>T
NM_001330578.1:c.2908G>T	NP_001317507.1:p.Val970Leu
NM_001330579.1:c.2890G>T	NP_001317508.1:p.Val964Leu
XM_005266424.4:c.3046G>T	XP_005266481.1:p.Val1016Leu
XM_005266430.4:c.3142G>T	XP_005266487.1:p.Val1048Leu
XM_005266431.4:c.3106G>T	XP_005266488.1:p.Val1036Leu
XM_006719837.3:c.3046G>T	XP_006719900.1:p.Val1016Leu
XM_011535117.3:c.3046G>T	XP_011533419.1:p.Val1016Leu
XM_017020627.1:c.3046G>T	XP_016876116.1:p.Val1016Leu
NM_000053.4:c.3142G>T MANE Select	NP_000044.2:p.Val1048Leu
NM_001005918.3:c.2521G>T	NP_001005918.1:p.Val841Leu
NM_001330579.2:c.2890G>T	NP_001317508.1:p.Val964Leu
NM_001243182.2:c.2809G>T	NP_001230111.1:p.Val937Leu
NM_001330578.2:c.2908G>T	NP_001317507.1:p.Val970Leu