Canonical Allele Identifier: CA388021390

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511622A>G (hg19) ; chr13:g.51937486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937486A>G , CM000675.2:g.51937486A>G	GRCh38
NC_000013.10:g.52511622A>G , CM000675.1:g.52511622A>G	GRCh37
NC_000013.9:g.51409623A>G	NCBI36
NG_008806.1:g.79009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1543T>C	ENSP00000489512.2:n.*1543T>C
ENST00000673864.2:c.*2637T>C	ENSP00000501045.2:n.*2637T>C
ENST00000674147.2:c.3272T>C	ENSP00000500964.2:p.Val1091Ala
ENST00000242839.10:c.3893T>C MANE Select	ENSP00000242839.5:p.Val1298Ala
ENST00000344297.9:c.3272T>C	ENSP00000342559.5:p.Val1091Ala
ENST00000400366.6:c.3560T>C	ENSP00000383217.3:p.Val1187Ala
ENST00000448424.7:c.3641T>C	ENSP00000416738.3:p.Val1214Ala
ENST00000673696.1:n.1134T>C
ENST00000673772.1:c.3659T>C	ENSP00000501168.1:p.Val1220Ala
ENST00000673867.1:n.4032T>C
ENST00000673923.1:n.759T>C
ENST00000674147.1:c.2828T>C	ENSP00000500964.1:p.Val943Ala
ENST00000242839.8:c.3893T>C	ENSP00000242839.4:p.Val1298Ala
ENST00000344297.8:c.3272T>C	ENSP00000342559.5:p.Val1091Ala
ENST00000400366.5:c.3560T>C	ENSP00000383217.3:p.Val1187Ala
ENST00000400370.8:c.2603T>C	ENSP00000383221.3:p.Val868Ala
ENST00000418097.7:c.3698T>C	ENSP00000393343.2:p.Val1233Ala
ENST00000448424.6:c.3659T>C	ENSP00000416738.2:p.Val1220Ala
ENST00000634296.1:c.1671T>C
ENST00000634308.1:c.*994T>C	ENSP00000489234.1:n.*994T>C
ENST00000634620.1:n.4637T>C
ENST00000634810.1:n.3238T>C
ENST00000634844.1:c.3749T>C	ENSP00000489398.1:p.Val1250Ala
NM_000053.3:c.3893T>C	NP_000044.2:p.Val1298Ala
NM_001005918.2:c.3272T>C	NP_001005918.1:p.Val1091Ala
NM_001243182.1:c.3560T>C	NP_001230111.1:p.Val1187Ala
XM_005266423.2:c.3797T>C	XP_005266480.1:p.Val1266Ala
XM_005266424.3:c.3797T>C	XP_005266481.1:p.Val1266Ala
XM_005266427.2:c.3659T>C	XP_005266484.1:p.Val1220Ala
XM_005266428.1:c.3641T>C	XP_005266485.1:p.Val1214Ala
XM_005266430.3:c.3893T>C	XP_005266487.1:p.Val1298Ala
XM_005266431.2:c.3857T>C	XP_005266488.1:p.Val1286Ala
XM_005266432.2:c.3407T>C	XP_005266489.1:p.Val1136Ala
XM_006719837.2:c.3797T>C	XP_006719900.1:p.Val1266Ala
XM_006719838.1:c.1709T>C	XP_006719901.1:p.Val570Ala
XM_006719839.1:c.1526T>C	XP_006719902.1:p.Val509Ala
XM_011535117.1:c.3797T>C	XP_011533419.1:p.Val1266Ala
XM_011535118.1:c.3758T>C	XP_011533420.1:p.Val1253Ala
XM_011535119.1:c.3710T>C	XP_011533421.1:p.Val1237Ala
XM_011535120.1:c.3479T>C	XP_011533422.1:p.Val1160Ala
XM_011535121.1:c.3380T>C	XP_011533423.1:p.Val1127Ala
XM_011535122.1:c.2561T>C	XP_011533424.1:p.Val854Ala
XR_941601.1:n.4112T>C
XR_941602.1:n.4112T>C
XR_941603.1:n.4112T>C
XR_941604.1:n.4112T>C
NM_001330578.1:c.3659T>C	NP_001317507.1:p.Val1220Ala
NM_001330579.1:c.3641T>C	NP_001317508.1:p.Val1214Ala
XM_005266424.4:c.3797T>C	XP_005266481.1:p.Val1266Ala
XM_005266430.4:c.3893T>C	XP_005266487.1:p.Val1298Ala
XM_005266431.4:c.3857T>C	XP_005266488.1:p.Val1286Ala
XM_006719837.3:c.3797T>C	XP_006719900.1:p.Val1266Ala
XM_011535117.3:c.3797T>C	XP_011533419.1:p.Val1266Ala
XM_017020627.1:c.3797T>C	XP_016876116.1:p.Val1266Ala
NM_000053.4:c.3893T>C MANE Select	NP_000044.2:p.Val1298Ala
NM_001005918.3:c.3272T>C	NP_001005918.1:p.Val1091Ala
NM_001330579.2:c.3641T>C	NP_001317508.1:p.Val1214Ala
NM_001243182.2:c.3560T>C	NP_001230111.1:p.Val1187Ala
NM_001330578.2:c.3659T>C	NP_001317507.1:p.Val1220Ala