Canonical Allele Identifier: CA388028777

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516654A>T (hg19) ; chr13:g.51942518A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942518A>T , CM000675.2:g.51942518A>T	GRCh38
NC_000013.10:g.52516654A>T , CM000675.1:g.52516654A>T	GRCh37
NC_000013.9:g.51414655A>T	NCBI36
NG_008806.1:g.73977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*930T>A	ENSP00000489512.2:n.*930T>A
ENST00000673864.2:c.*2024T>A	ENSP00000501045.2:n.*2024T>A
ENST00000674147.2:c.2659T>A	ENSP00000500964.2:p.Phe887Ile
ENST00000242839.10:c.3280T>A MANE Select	ENSP00000242839.5:p.Phe1094Ile
ENST00000344297.9:c.2659T>A	ENSP00000342559.5:p.Phe887Ile
ENST00000400366.6:c.2947T>A	ENSP00000383217.3:p.Phe983Ile
ENST00000448424.7:c.3028T>A	ENSP00000416738.3:p.Phe1010Ile
ENST00000673772.1:c.3046T>A	ENSP00000501168.1:p.Phe1016Ile
ENST00000673867.1:n.3419T>A
ENST00000674126.1:n.3643T>A
ENST00000674147.1:c.2215T>A	ENSP00000500964.1:p.Phe739Ile
ENST00000242839.8:c.3280T>A	ENSP00000242839.4:p.Phe1094Ile
ENST00000344297.8:c.2659T>A	ENSP00000342559.5:p.Phe887Ile
ENST00000400366.5:c.2947T>A	ENSP00000383217.3:p.Phe983Ile
ENST00000400370.8:c.1990T>A	ENSP00000383221.3:p.Phe664Ile
ENST00000418097.7:c.3085T>A	ENSP00000393343.2:p.Phe1029Ile
ENST00000448424.6:c.3046T>A	ENSP00000416738.2:p.Phe1016Ile
ENST00000634296.1:c.1058T>A
ENST00000634308.1:c.*381T>A	ENSP00000489234.1:n.*381T>A
ENST00000634620.1:n.4024T>A
ENST00000634810.1:n.2625T>A
ENST00000634844.1:c.3136T>A	ENSP00000489398.1:p.Phe1046Ile
NM_000053.3:c.3280T>A	NP_000044.2:p.Phe1094Ile
NM_001005918.2:c.2659T>A	NP_001005918.1:p.Phe887Ile
NM_001243182.1:c.2947T>A	NP_001230111.1:p.Phe983Ile
XM_005266423.2:c.3184T>A	XP_005266480.1:p.Phe1062Ile
XM_005266424.3:c.3184T>A	XP_005266481.1:p.Phe1062Ile
XM_005266427.2:c.3046T>A	XP_005266484.1:p.Phe1016Ile
XM_005266428.1:c.3028T>A	XP_005266485.1:p.Phe1010Ile
XM_005266430.3:c.3280T>A	XP_005266487.1:p.Phe1094Ile
XM_005266431.2:c.3244T>A	XP_005266488.1:p.Phe1082Ile
XM_005266432.2:c.2794T>A	XP_005266489.1:p.Phe932Ile
XM_006719837.2:c.3184T>A	XP_006719900.1:p.Phe1062Ile
XM_006719838.1:c.1096T>A	XP_006719901.1:p.Phe366Ile
XM_006719839.1:c.913T>A	XP_006719902.1:p.Phe305Ile
XM_011535117.1:c.3184T>A	XP_011533419.1:p.Phe1062Ile
XM_011535118.1:c.3145T>A	XP_011533420.1:p.Phe1049Ile
XM_011535119.1:c.3097T>A	XP_011533421.1:p.Phe1033Ile
XM_011535120.1:c.2866T>A	XP_011533422.1:p.Phe956Ile
XM_011535121.1:c.2767T>A	XP_011533423.1:p.Phe923Ile
XM_011535122.1:c.1948T>A	XP_011533424.1:p.Phe650Ile
XR_941601.1:n.3499T>A
XR_941602.1:n.3499T>A
XR_941603.1:n.3499T>A
XR_941604.1:n.3499T>A
NM_001330578.1:c.3046T>A	NP_001317507.1:p.Phe1016Ile
NM_001330579.1:c.3028T>A	NP_001317508.1:p.Phe1010Ile
XM_005266424.4:c.3184T>A	XP_005266481.1:p.Phe1062Ile
XM_005266430.4:c.3280T>A	XP_005266487.1:p.Phe1094Ile
XM_005266431.4:c.3244T>A	XP_005266488.1:p.Phe1082Ile
XM_006719837.3:c.3184T>A	XP_006719900.1:p.Phe1062Ile
XM_011535117.3:c.3184T>A	XP_011533419.1:p.Phe1062Ile
XM_017020627.1:c.3184T>A	XP_016876116.1:p.Phe1062Ile
NM_000053.4:c.3280T>A MANE Select	NP_000044.2:p.Phe1094Ile
NM_001005918.3:c.2659T>A	NP_001005918.1:p.Phe887Ile
NM_001330579.2:c.3028T>A	NP_001317508.1:p.Phe1010Ile
NM_001243182.2:c.2947T>A	NP_001230111.1:p.Phe983Ile
NM_001330578.2:c.3046T>A	NP_001317507.1:p.Phe1016Ile