Canonical Allele Identifier: CA388028772

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*930T>G	ENSP00000489512.2:n.*930T>G
ENST00000673864.2:c.*2024T>G	ENSP00000501045.2:n.*2024T>G
ENST00000674147.2:c.2659T>G	ENSP00000500964.2:p.Phe887Val
ENST00000242839.10:c.3280T>G MANE Select	ENSP00000242839.5:p.Phe1094Val
ENST00000344297.9:c.2659T>G	ENSP00000342559.5:p.Phe887Val
ENST00000400366.6:c.2947T>G	ENSP00000383217.3:p.Phe983Val
ENST00000448424.7:c.3028T>G	ENSP00000416738.3:p.Phe1010Val
ENST00000673772.1:c.3046T>G	ENSP00000501168.1:p.Phe1016Val
ENST00000673867.1:n.3419T>G
ENST00000674126.1:n.3643T>G
ENST00000674147.1:c.2215T>G	ENSP00000500964.1:p.Phe739Val
ENST00000242839.8:c.3280T>G	ENSP00000242839.4:p.Phe1094Val
ENST00000344297.8:c.2659T>G	ENSP00000342559.5:p.Phe887Val
ENST00000400366.5:c.2947T>G	ENSP00000383217.3:p.Phe983Val
ENST00000400370.8:c.1990T>G	ENSP00000383221.3:p.Phe664Val
ENST00000418097.7:c.3085T>G	ENSP00000393343.2:p.Phe1029Val
ENST00000448424.6:c.3046T>G	ENSP00000416738.2:p.Phe1016Val
ENST00000634296.1:c.1058T>G
ENST00000634308.1:c.*381T>G	ENSP00000489234.1:n.*381T>G
ENST00000634620.1:n.4024T>G
ENST00000634810.1:n.2625T>G
ENST00000634844.1:c.3136T>G	ENSP00000489398.1:p.Phe1046Val
NM_000053.3:c.3280T>G	NP_000044.2:p.Phe1094Val
NM_001005918.2:c.2659T>G	NP_001005918.1:p.Phe887Val
NM_001243182.1:c.2947T>G	NP_001230111.1:p.Phe983Val
XM_005266423.2:c.3184T>G	XP_005266480.1:p.Phe1062Val
XM_005266424.3:c.3184T>G	XP_005266481.1:p.Phe1062Val
XM_005266427.2:c.3046T>G	XP_005266484.1:p.Phe1016Val
XM_005266428.1:c.3028T>G	XP_005266485.1:p.Phe1010Val
XM_005266430.3:c.3280T>G	XP_005266487.1:p.Phe1094Val
XM_005266431.2:c.3244T>G	XP_005266488.1:p.Phe1082Val
XM_005266432.2:c.2794T>G	XP_005266489.1:p.Phe932Val
XM_006719837.2:c.3184T>G	XP_006719900.1:p.Phe1062Val
XM_006719838.1:c.1096T>G	XP_006719901.1:p.Phe366Val
XM_006719839.1:c.913T>G	XP_006719902.1:p.Phe305Val
XM_011535117.1:c.3184T>G	XP_011533419.1:p.Phe1062Val
XM_011535118.1:c.3145T>G	XP_011533420.1:p.Phe1049Val
XM_011535119.1:c.3097T>G	XP_011533421.1:p.Phe1033Val
XM_011535120.1:c.2866T>G	XP_011533422.1:p.Phe956Val
XM_011535121.1:c.2767T>G	XP_011533423.1:p.Phe923Val
XM_011535122.1:c.1948T>G	XP_011533424.1:p.Phe650Val
XR_941601.1:n.3499T>G
XR_941602.1:n.3499T>G
XR_941603.1:n.3499T>G
XR_941604.1:n.3499T>G
NM_001330578.1:c.3046T>G	NP_001317507.1:p.Phe1016Val
NM_001330579.1:c.3028T>G	NP_001317508.1:p.Phe1010Val
XM_005266424.4:c.3184T>G	XP_005266481.1:p.Phe1062Val
XM_005266430.4:c.3280T>G	XP_005266487.1:p.Phe1094Val
XM_005266431.4:c.3244T>G	XP_005266488.1:p.Phe1082Val
XM_006719837.3:c.3184T>G	XP_006719900.1:p.Phe1062Val
XM_011535117.3:c.3184T>G	XP_011533419.1:p.Phe1062Val
XM_017020627.1:c.3184T>G	XP_016876116.1:p.Phe1062Val
NM_000053.4:c.3280T>G MANE Select	NP_000044.2:p.Phe1094Val
NM_001005918.3:c.2659T>G	NP_001005918.1:p.Phe887Val
NM_001330579.2:c.3028T>G	NP_001317508.1:p.Phe1010Val
NM_001243182.2:c.2947T>G	NP_001230111.1:p.Phe983Val
NM_001330578.2:c.3046T>G	NP_001317507.1:p.Phe1016Val