Canonical Allele Identifier: CA388028513

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1482909
• ClinVar RCV Id: RCV001995872
• dbSNP Id: rs2138854011
• MyVariant Identifiers: chr13:g.52516630T>A (hg19) ; chr13:g.51942494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942494T>A , CM000675.2:g.51942494T>A	GRCh38
NC_000013.10:g.52516630T>A , CM000675.1:g.52516630T>A	GRCh37
NC_000013.9:g.51414631T>A	NCBI36
NG_008806.1:g.74001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*954A>T	ENSP00000489512.2:n.*954A>T
ENST00000673864.2:c.*2048A>T	ENSP00000501045.2:n.*2048A>T
ENST00000674147.2:c.2683A>T	ENSP00000500964.2:p.Ile895Phe
ENST00000242839.10:c.3304A>T MANE Select	ENSP00000242839.5:p.Ile1102Phe
ENST00000344297.9:c.2683A>T	ENSP00000342559.5:p.Ile895Phe
ENST00000400366.6:c.2971A>T	ENSP00000383217.3:p.Ile991Phe
ENST00000448424.7:c.3052A>T	ENSP00000416738.3:p.Ile1018Phe
ENST00000673772.1:c.3070A>T	ENSP00000501168.1:p.Ile1024Phe
ENST00000673867.1:n.3443A>T
ENST00000674126.1:n.3667A>T
ENST00000674147.1:c.2239A>T	ENSP00000500964.1:p.Ile747Phe
ENST00000242839.8:c.3304A>T	ENSP00000242839.4:p.Ile1102Phe
ENST00000344297.8:c.2683A>T	ENSP00000342559.5:p.Ile895Phe
ENST00000400366.5:c.2971A>T	ENSP00000383217.3:p.Ile991Phe
ENST00000400370.8:c.2014A>T	ENSP00000383221.3:p.Ile672Phe
ENST00000418097.7:c.3109A>T	ENSP00000393343.2:p.Ile1037Phe
ENST00000448424.6:c.3070A>T	ENSP00000416738.2:p.Ile1024Phe
ENST00000634296.1:c.1082A>T
ENST00000634308.1:c.*405A>T	ENSP00000489234.1:n.*405A>T
ENST00000634620.1:n.4048A>T
ENST00000634810.1:n.2649A>T
ENST00000634844.1:c.3160A>T	ENSP00000489398.1:p.Ile1054Phe
NM_000053.3:c.3304A>T	NP_000044.2:p.Ile1102Phe
NM_001005918.2:c.2683A>T	NP_001005918.1:p.Ile895Phe
NM_001243182.1:c.2971A>T	NP_001230111.1:p.Ile991Phe
XM_005266423.2:c.3208A>T	XP_005266480.1:p.Ile1070Phe
XM_005266424.3:c.3208A>T	XP_005266481.1:p.Ile1070Phe
XM_005266427.2:c.3070A>T	XP_005266484.1:p.Ile1024Phe
XM_005266428.1:c.3052A>T	XP_005266485.1:p.Ile1018Phe
XM_005266430.3:c.3304A>T	XP_005266487.1:p.Ile1102Phe
XM_005266431.2:c.3268A>T	XP_005266488.1:p.Ile1090Phe
XM_005266432.2:c.2818A>T	XP_005266489.1:p.Ile940Phe
XM_006719837.2:c.3208A>T	XP_006719900.1:p.Ile1070Phe
XM_006719838.1:c.1120A>T	XP_006719901.1:p.Ile374Phe
XM_006719839.1:c.937A>T	XP_006719902.1:p.Ile313Phe
XM_011535117.1:c.3208A>T	XP_011533419.1:p.Ile1070Phe
XM_011535118.1:c.3169A>T	XP_011533420.1:p.Ile1057Phe
XM_011535119.1:c.3121A>T	XP_011533421.1:p.Ile1041Phe
XM_011535120.1:c.2890A>T	XP_011533422.1:p.Ile964Phe
XM_011535121.1:c.2791A>T	XP_011533423.1:p.Ile931Phe
XM_011535122.1:c.1972A>T	XP_011533424.1:p.Ile658Phe
XR_941601.1:n.3523A>T
XR_941602.1:n.3523A>T
XR_941603.1:n.3523A>T
XR_941604.1:n.3523A>T
NM_001330578.1:c.3070A>T	NP_001317507.1:p.Ile1024Phe
NM_001330579.1:c.3052A>T	NP_001317508.1:p.Ile1018Phe
XM_005266424.4:c.3208A>T	XP_005266481.1:p.Ile1070Phe
XM_005266430.4:c.3304A>T	XP_005266487.1:p.Ile1102Phe
XM_005266431.4:c.3268A>T	XP_005266488.1:p.Ile1090Phe
XM_006719837.3:c.3208A>T	XP_006719900.1:p.Ile1070Phe
XM_011535117.3:c.3208A>T	XP_011533419.1:p.Ile1070Phe
XM_017020627.1:c.3208A>T	XP_016876116.1:p.Ile1070Phe
NM_000053.4:c.3304A>T MANE Select	NP_000044.2:p.Ile1102Phe
NM_001005918.3:c.2683A>T	NP_001005918.1:p.Ile895Phe
NM_001330579.2:c.3052A>T	NP_001317508.1:p.Ile1018Phe
NM_001243182.2:c.2971A>T	NP_001230111.1:p.Ile991Phe
NM_001330578.2:c.3070A>T	NP_001317507.1:p.Ile1024Phe