Canonical Allele Identifier: CA388026749

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515343A>G (hg19) ; chr13:g.51941207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941207A>G , CM000675.2:g.51941207A>G	GRCh38
NC_000013.10:g.52515343A>G , CM000675.1:g.52515343A>G	GRCh37
NC_000013.9:g.51413344A>G	NCBI36
NG_008806.1:g.75288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1080T>C	ENSP00000489512.2:n.*1080T>C
ENST00000673864.2:c.*2174T>C	ENSP00000501045.2:n.*2174T>C
ENST00000674147.2:c.2809T>C	ENSP00000500964.2:p.Phe937Leu
ENST00000242839.10:c.3430T>C MANE Select	ENSP00000242839.5:p.Phe1144Leu
ENST00000344297.9:c.2809T>C	ENSP00000342559.5:p.Phe937Leu
ENST00000400366.6:c.3097T>C	ENSP00000383217.3:p.Phe1033Leu
ENST00000448424.7:c.3178T>C	ENSP00000416738.3:p.Phe1060Leu
ENST00000673772.1:c.3196T>C	ENSP00000501168.1:p.Phe1066Leu
ENST00000673867.1:n.3569T>C
ENST00000674126.1:n.3793T>C
ENST00000674147.1:c.2365T>C	ENSP00000500964.1:p.Phe789Leu
ENST00000242839.8:c.3430T>C	ENSP00000242839.4:p.Phe1144Leu
ENST00000344297.8:c.2809T>C	ENSP00000342559.5:p.Phe937Leu
ENST00000400366.5:c.3097T>C	ENSP00000383217.3:p.Phe1033Leu
ENST00000400370.8:c.2140T>C	ENSP00000383221.3:p.Phe714Leu
ENST00000418097.7:c.3235T>C	ENSP00000393343.2:p.Phe1079Leu
ENST00000448424.6:c.3196T>C	ENSP00000416738.2:p.Phe1066Leu
ENST00000634296.1:c.1208T>C
ENST00000634308.1:c.*531T>C	ENSP00000489234.1:n.*531T>C
ENST00000634620.1:n.4174T>C
ENST00000634810.1:n.2775T>C
ENST00000634844.1:c.3286T>C	ENSP00000489398.1:p.Phe1096Leu
NM_000053.3:c.3430T>C	NP_000044.2:p.Phe1144Leu
NM_001005918.2:c.2809T>C	NP_001005918.1:p.Phe937Leu
NM_001243182.1:c.3097T>C	NP_001230111.1:p.Phe1033Leu
XM_005266423.2:c.3334T>C	XP_005266480.1:p.Phe1112Leu
XM_005266424.3:c.3334T>C	XP_005266481.1:p.Phe1112Leu
XM_005266427.2:c.3196T>C	XP_005266484.1:p.Phe1066Leu
XM_005266428.1:c.3178T>C	XP_005266485.1:p.Phe1060Leu
XM_005266430.3:c.3430T>C	XP_005266487.1:p.Phe1144Leu
XM_005266431.2:c.3394T>C	XP_005266488.1:p.Phe1132Leu
XM_005266432.2:c.2944T>C	XP_005266489.1:p.Phe982Leu
XM_006719837.2:c.3334T>C	XP_006719900.1:p.Phe1112Leu
XM_006719838.1:c.1246T>C	XP_006719901.1:p.Phe416Leu
XM_006719839.1:c.1063T>C	XP_006719902.1:p.Phe355Leu
XM_011535117.1:c.3334T>C	XP_011533419.1:p.Phe1112Leu
XM_011535118.1:c.3295T>C	XP_011533420.1:p.Phe1099Leu
XM_011535119.1:c.3247T>C	XP_011533421.1:p.Phe1083Leu
XM_011535120.1:c.3016T>C	XP_011533422.1:p.Phe1006Leu
XM_011535121.1:c.2917T>C	XP_011533423.1:p.Phe973Leu
XM_011535122.1:c.2098T>C	XP_011533424.1:p.Phe700Leu
XR_941601.1:n.3649T>C
XR_941602.1:n.3649T>C
XR_941603.1:n.3649T>C
XR_941604.1:n.3649T>C
NM_001330578.1:c.3196T>C	NP_001317507.1:p.Phe1066Leu
NM_001330579.1:c.3178T>C	NP_001317508.1:p.Phe1060Leu
XM_005266424.4:c.3334T>C	XP_005266481.1:p.Phe1112Leu
XM_005266430.4:c.3430T>C	XP_005266487.1:p.Phe1144Leu
XM_005266431.4:c.3394T>C	XP_005266488.1:p.Phe1132Leu
XM_006719837.3:c.3334T>C	XP_006719900.1:p.Phe1112Leu
XM_011535117.3:c.3334T>C	XP_011533419.1:p.Phe1112Leu
XM_017020627.1:c.3334T>C	XP_016876116.1:p.Phe1112Leu
NM_000053.4:c.3430T>C MANE Select	NP_000044.2:p.Phe1144Leu
NM_001005918.3:c.2809T>C	NP_001005918.1:p.Phe937Leu
NM_001330579.2:c.3178T>C	NP_001317508.1:p.Phe1060Leu
NM_001243182.2:c.3097T>C	NP_001230111.1:p.Phe1033Leu
NM_001330578.2:c.3196T>C	NP_001317507.1:p.Phe1066Leu