Canonical Allele Identifier: CA388032537

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520599T>A (hg19) ; chr13:g.51946463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946463T>A , CM000675.2:g.51946463T>A	GRCh38
NC_000013.10:g.52520599T>A , CM000675.1:g.52520599T>A	GRCh37
NC_000013.9:g.51418600T>A	NCBI36
NG_008806.1:g.70032A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*714A>T	ENSP00000489512.2:n.*714A>T
ENST00000673864.2:c.*1625A>T	ENSP00000501045.2:n.*1625A>T
ENST00000674147.2:c.2260A>T	ENSP00000500964.2:p.Ile754Phe
ENST00000242839.10:c.2881A>T MANE Select	ENSP00000242839.5:p.Ile961Phe
ENST00000344297.9:c.2260A>T	ENSP00000342559.5:p.Ile754Phe
ENST00000400366.6:c.2548A>T	ENSP00000383217.3:p.Ile850Phe
ENST00000448424.7:c.2629A>T	ENSP00000416738.3:p.Ile877Phe
ENST00000673772.1:c.2647A>T	ENSP00000501168.1:p.Ile883Phe
ENST00000673867.1:n.1028A>T
ENST00000674126.1:n.3244A>T
ENST00000674147.1:c.1816A>T	ENSP00000500964.1:p.Ile606Phe
ENST00000242839.8:c.2881A>T	ENSP00000242839.4:p.Ile961Phe
ENST00000344297.8:c.2260A>T	ENSP00000342559.5:p.Ile754Phe
ENST00000400366.5:c.2548A>T	ENSP00000383217.3:p.Ile850Phe
ENST00000400370.8:c.1591A>T	ENSP00000383221.3:p.Ile531Phe
ENST00000418097.7:c.2866-2172A>T	ENSP00000393343.2:n.2866-2172A>T
ENST00000448424.6:c.2647A>T	ENSP00000416738.2:p.Ile883Phe
ENST00000466629.1:n.101A>T
ENST00000634296.1:c.842A>T
ENST00000634308.1:c.2667A>T	ENSP00000489234.1:p.Thr889=
ENST00000634620.1:n.3625A>T
ENST00000634810.1:n.2226A>T
ENST00000634844.1:c.2737A>T	ENSP00000489398.1:p.Ile913Phe
ENST00000635406.1:n.227A>T
NM_000053.3:c.2881A>T	NP_000044.2:p.Ile961Phe
NM_001005918.2:c.2260A>T	NP_001005918.1:p.Ile754Phe
NM_001243182.1:c.2548A>T	NP_001230111.1:p.Ile850Phe
XM_005266423.2:c.2785A>T	XP_005266480.1:p.Ile929Phe
XM_005266424.3:c.2785A>T	XP_005266481.1:p.Ile929Phe
XM_005266427.2:c.2647A>T	XP_005266484.1:p.Ile883Phe
XM_005266428.1:c.2629A>T	XP_005266485.1:p.Ile877Phe
XM_005266430.3:c.2881A>T	XP_005266487.1:p.Ile961Phe
XM_005266431.2:c.2845A>T	XP_005266488.1:p.Ile949Phe
XM_005266432.2:c.2395A>T	XP_005266489.1:p.Ile799Phe
XM_006719837.2:c.2785A>T	XP_006719900.1:p.Ile929Phe
XM_006719838.1:c.697A>T	XP_006719901.1:p.Ile233Phe
XM_006719839.1:c.697A>T	XP_006719902.1:p.Ile233Phe
XM_011535117.1:c.2785A>T	XP_011533419.1:p.Ile929Phe
XM_011535118.1:c.2746A>T	XP_011533420.1:p.Ile916Phe
XM_011535119.1:c.2881A>T	XP_011533421.1:p.Ile961Phe
XM_011535120.1:c.2467A>T	XP_011533422.1:p.Ile823Phe
XM_011535121.1:c.2730+3544A>T	XP_011533423.1:n.2730+3544A>T
XM_011535122.1:c.1549A>T	XP_011533424.1:p.Ile517Phe
XR_941601.1:n.3100A>T
XR_941602.1:n.3100A>T
XR_941603.1:n.3100A>T
XR_941604.1:n.3100A>T
NM_001330578.1:c.2647A>T	NP_001317507.1:p.Ile883Phe
NM_001330579.1:c.2629A>T	NP_001317508.1:p.Ile877Phe
XM_005266424.4:c.2785A>T	XP_005266481.1:p.Ile929Phe
XM_005266430.4:c.2881A>T	XP_005266487.1:p.Ile961Phe
XM_005266431.4:c.2845A>T	XP_005266488.1:p.Ile949Phe
XM_006719837.3:c.2785A>T	XP_006719900.1:p.Ile929Phe
XM_011535117.3:c.2785A>T	XP_011533419.1:p.Ile929Phe
XM_017020627.1:c.2785A>T	XP_016876116.1:p.Ile929Phe
NM_000053.4:c.2881A>T MANE Select	NP_000044.2:p.Ile961Phe
NM_001005918.3:c.2260A>T	NP_001005918.1:p.Ile754Phe
NM_001330579.2:c.2629A>T	NP_001317508.1:p.Ile877Phe
NM_001243182.2:c.2548A>T	NP_001230111.1:p.Ile850Phe
NM_001330578.2:c.2647A>T	NP_001317507.1:p.Ile883Phe