Canonical Allele Identifier: CA388021388

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1543T>G	ENSP00000489512.2:n.*1543T>G
ENST00000673864.2:c.*2637T>G	ENSP00000501045.2:n.*2637T>G
ENST00000674147.2:c.3272T>G	ENSP00000500964.2:p.Val1091Gly
ENST00000242839.10:c.3893T>G MANE Select	ENSP00000242839.5:p.Val1298Gly
ENST00000344297.9:c.3272T>G	ENSP00000342559.5:p.Val1091Gly
ENST00000400366.6:c.3560T>G	ENSP00000383217.3:p.Val1187Gly
ENST00000448424.7:c.3641T>G	ENSP00000416738.3:p.Val1214Gly
ENST00000673696.1:n.1134T>G
ENST00000673772.1:c.3659T>G	ENSP00000501168.1:p.Val1220Gly
ENST00000673867.1:n.4032T>G
ENST00000673923.1:n.759T>G
ENST00000674147.1:c.2828T>G	ENSP00000500964.1:p.Val943Gly
ENST00000242839.8:c.3893T>G	ENSP00000242839.4:p.Val1298Gly
ENST00000344297.8:c.3272T>G	ENSP00000342559.5:p.Val1091Gly
ENST00000400366.5:c.3560T>G	ENSP00000383217.3:p.Val1187Gly
ENST00000400370.8:c.2603T>G	ENSP00000383221.3:p.Val868Gly
ENST00000418097.7:c.3698T>G	ENSP00000393343.2:p.Val1233Gly
ENST00000448424.6:c.3659T>G	ENSP00000416738.2:p.Val1220Gly
ENST00000634296.1:c.1671T>G
ENST00000634308.1:c.*994T>G	ENSP00000489234.1:n.*994T>G
ENST00000634620.1:n.4637T>G
ENST00000634810.1:n.3238T>G
ENST00000634844.1:c.3749T>G	ENSP00000489398.1:p.Val1250Gly
NM_000053.3:c.3893T>G	NP_000044.2:p.Val1298Gly
NM_001005918.2:c.3272T>G	NP_001005918.1:p.Val1091Gly
NM_001243182.1:c.3560T>G	NP_001230111.1:p.Val1187Gly
XM_005266423.2:c.3797T>G	XP_005266480.1:p.Val1266Gly
XM_005266424.3:c.3797T>G	XP_005266481.1:p.Val1266Gly
XM_005266427.2:c.3659T>G	XP_005266484.1:p.Val1220Gly
XM_005266428.1:c.3641T>G	XP_005266485.1:p.Val1214Gly
XM_005266430.3:c.3893T>G	XP_005266487.1:p.Val1298Gly
XM_005266431.2:c.3857T>G	XP_005266488.1:p.Val1286Gly
XM_005266432.2:c.3407T>G	XP_005266489.1:p.Val1136Gly
XM_006719837.2:c.3797T>G	XP_006719900.1:p.Val1266Gly
XM_006719838.1:c.1709T>G	XP_006719901.1:p.Val570Gly
XM_006719839.1:c.1526T>G	XP_006719902.1:p.Val509Gly
XM_011535117.1:c.3797T>G	XP_011533419.1:p.Val1266Gly
XM_011535118.1:c.3758T>G	XP_011533420.1:p.Val1253Gly
XM_011535119.1:c.3710T>G	XP_011533421.1:p.Val1237Gly
XM_011535120.1:c.3479T>G	XP_011533422.1:p.Val1160Gly
XM_011535121.1:c.3380T>G	XP_011533423.1:p.Val1127Gly
XM_011535122.1:c.2561T>G	XP_011533424.1:p.Val854Gly
XR_941601.1:n.4112T>G
XR_941602.1:n.4112T>G
XR_941603.1:n.4112T>G
XR_941604.1:n.4112T>G
NM_001330578.1:c.3659T>G	NP_001317507.1:p.Val1220Gly
NM_001330579.1:c.3641T>G	NP_001317508.1:p.Val1214Gly
XM_005266424.4:c.3797T>G	XP_005266481.1:p.Val1266Gly
XM_005266430.4:c.3893T>G	XP_005266487.1:p.Val1298Gly
XM_005266431.4:c.3857T>G	XP_005266488.1:p.Val1286Gly
XM_006719837.3:c.3797T>G	XP_006719900.1:p.Val1266Gly
XM_011535117.3:c.3797T>G	XP_011533419.1:p.Val1266Gly
XM_017020627.1:c.3797T>G	XP_016876116.1:p.Val1266Gly
NM_000053.4:c.3893T>G MANE Select	NP_000044.2:p.Val1298Gly
NM_001005918.3:c.3272T>G	NP_001005918.1:p.Val1091Gly
NM_001330579.2:c.3641T>G	NP_001317508.1:p.Val1214Gly
NM_001243182.2:c.3560T>G	NP_001230111.1:p.Val1187Gly
NM_001330578.2:c.3659T>G	NP_001317507.1:p.Val1220Gly