Canonical Allele Identifier: CA388032590

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520613T>A (hg19) ; chr13:g.51946477T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946477T>A , CM000675.2:g.51946477T>A	GRCh38
NC_000013.10:g.52520613T>A , CM000675.1:g.52520613T>A	GRCh37
NC_000013.9:g.51418614T>A	NCBI36
NG_008806.1:g.70018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*700A>T	ENSP00000489512.2:n.*700A>T
ENST00000673864.2:c.*1611A>T	ENSP00000501045.2:n.*1611A>T
ENST00000674147.2:c.2246A>T	ENSP00000500964.2:p.Asn749Ile
ENST00000242839.10:c.2867A>T MANE Select	ENSP00000242839.5:p.Asn956Ile
ENST00000344297.9:c.2246A>T	ENSP00000342559.5:p.Asn749Ile
ENST00000400366.6:c.2534A>T	ENSP00000383217.3:p.Asn845Ile
ENST00000448424.7:c.2615A>T	ENSP00000416738.3:p.Asn872Ile
ENST00000673772.1:c.2633A>T	ENSP00000501168.1:p.Asn878Ile
ENST00000673867.1:n.1014A>T
ENST00000674126.1:n.3230A>T
ENST00000674147.1:c.1802A>T	ENSP00000500964.1:p.Asn601Ile
ENST00000242839.8:c.2867A>T	ENSP00000242839.4:p.Asn956Ile
ENST00000344297.8:c.2246A>T	ENSP00000342559.5:p.Asn749Ile
ENST00000400366.5:c.2534A>T	ENSP00000383217.3:p.Asn845Ile
ENST00000400370.8:c.1577A>T	ENSP00000383221.3:p.Asn526Ile
ENST00000418097.7:c.2866-2186A>T	ENSP00000393343.2:n.2866-2186A>T
ENST00000448424.6:c.2633A>T	ENSP00000416738.2:p.Asn878Ile
ENST00000466629.1:n.87A>T
ENST00000634296.1:c.828A>T
ENST00000634308.1:c.2653A>T	ENSP00000489234.1:p.Thr885Ser
ENST00000634620.1:n.3611A>T
ENST00000634810.1:n.2212A>T
ENST00000634844.1:c.2723A>T	ENSP00000489398.1:p.Asn908Ile
ENST00000635406.1:n.213A>T
NM_000053.3:c.2867A>T	NP_000044.2:p.Asn956Ile
NM_001005918.2:c.2246A>T	NP_001005918.1:p.Asn749Ile
NM_001243182.1:c.2534A>T	NP_001230111.1:p.Asn845Ile
XM_005266423.2:c.2771A>T	XP_005266480.1:p.Asn924Ile
XM_005266424.3:c.2771A>T	XP_005266481.1:p.Asn924Ile
XM_005266427.2:c.2633A>T	XP_005266484.1:p.Asn878Ile
XM_005266428.1:c.2615A>T	XP_005266485.1:p.Asn872Ile
XM_005266430.3:c.2867A>T	XP_005266487.1:p.Asn956Ile
XM_005266431.2:c.2831A>T	XP_005266488.1:p.Asn944Ile
XM_005266432.2:c.2381A>T	XP_005266489.1:p.Asn794Ile
XM_006719837.2:c.2771A>T	XP_006719900.1:p.Asn924Ile
XM_006719838.1:c.683A>T	XP_006719901.1:p.Asn228Ile
XM_006719839.1:c.683A>T	XP_006719902.1:p.Asn228Ile
XM_011535117.1:c.2771A>T	XP_011533419.1:p.Asn924Ile
XM_011535118.1:c.2732A>T	XP_011533420.1:p.Asn911Ile
XM_011535119.1:c.2867A>T	XP_011533421.1:p.Asn956Ile
XM_011535120.1:c.2453A>T	XP_011533422.1:p.Asn818Ile
XM_011535121.1:c.2730+3530A>T	XP_011533423.1:n.2730+3530A>T
XM_011535122.1:c.1535A>T	XP_011533424.1:p.Asn512Ile
XR_941601.1:n.3086A>T
XR_941602.1:n.3086A>T
XR_941603.1:n.3086A>T
XR_941604.1:n.3086A>T
NM_001330578.1:c.2633A>T	NP_001317507.1:p.Asn878Ile
NM_001330579.1:c.2615A>T	NP_001317508.1:p.Asn872Ile
XM_005266424.4:c.2771A>T	XP_005266481.1:p.Asn924Ile
XM_005266430.4:c.2867A>T	XP_005266487.1:p.Asn956Ile
XM_005266431.4:c.2831A>T	XP_005266488.1:p.Asn944Ile
XM_006719837.3:c.2771A>T	XP_006719900.1:p.Asn924Ile
XM_011535117.3:c.2771A>T	XP_011533419.1:p.Asn924Ile
XM_017020627.1:c.2771A>T	XP_016876116.1:p.Asn924Ile
NM_000053.4:c.2867A>T MANE Select	NP_000044.2:p.Asn956Ile
NM_001005918.3:c.2246A>T	NP_001005918.1:p.Asn749Ile
NM_001330579.2:c.2615A>T	NP_001317508.1:p.Asn872Ile
NM_001243182.2:c.2534A>T	NP_001230111.1:p.Asn845Ile
NM_001330578.2:c.2633A>T	NP_001317507.1:p.Asn878Ile