Canonical Allele Identifier: CA388019943

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509731C>A (hg19) ; chr13:g.51935595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935595C>A , CM000675.2:g.51935595C>A	GRCh38
NC_000013.10:g.52509731C>A , CM000675.1:g.52509731C>A	GRCh37
NC_000013.9:g.51407732C>A	NCBI36
NG_008806.1:g.80900G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1772G>T	ENSP00000489512.2:n.*1772G>T
ENST00000673864.2:c.*2866G>T	ENSP00000501045.2:n.*2866G>T
ENST00000674147.2:c.3501G>T	ENSP00000500964.2:p.Lys1167Asn
ENST00000242839.10:c.4122G>T MANE Select	ENSP00000242839.5:p.Lys1374Asn
ENST00000344297.9:c.3501G>T	ENSP00000342559.5:p.Lys1167Asn
ENST00000400366.6:c.3789G>T	ENSP00000383217.3:p.Lys1263Asn
ENST00000448424.7:c.3870G>T	ENSP00000416738.3:p.Lys1290Asn
ENST00000673696.1:n.1445G>T
ENST00000673772.1:c.3888G>T	ENSP00000501168.1:p.Lys1296Asn
ENST00000673867.1:n.4261G>T
ENST00000673923.1:n.988G>T
ENST00000674147.1:c.3057G>T	ENSP00000500964.1:p.Lys1019Asn
ENST00000242839.8:c.4122G>T	ENSP00000242839.4:p.Lys1374Asn
ENST00000344297.8:c.3501G>T	ENSP00000342559.5:p.Lys1167Asn
ENST00000400366.5:c.3789G>T	ENSP00000383217.3:p.Lys1263Asn
ENST00000400370.8:c.2832G>T	ENSP00000383221.3:p.Lys944Asn
ENST00000418097.7:c.3927G>T	ENSP00000393343.2:p.Lys1309Asn
ENST00000448424.6:c.3888G>T	ENSP00000416738.2:p.Lys1296Asn
ENST00000634296.1:c.1900G>T
ENST00000634308.1:c.*1223G>T	ENSP00000489234.1:n.*1223G>T
ENST00000634620.1:n.4866G>T
ENST00000634810.1:n.3467G>T
ENST00000634844.1:c.3978G>T	ENSP00000489398.1:p.Lys1326Asn
NM_000053.3:c.4122G>T	NP_000044.2:p.Lys1374Asn
NM_001005918.2:c.3501G>T	NP_001005918.1:p.Lys1167Asn
NM_001243182.1:c.3789G>T	NP_001230111.1:p.Lys1263Asn
XM_005266423.2:c.4026G>T	XP_005266480.1:p.Lys1342Asn
XM_005266424.3:c.4026G>T	XP_005266481.1:p.Lys1342Asn
XM_005266427.2:c.3888G>T	XP_005266484.1:p.Lys1296Asn
XM_005266428.1:c.3870G>T	XP_005266485.1:p.Lys1290Asn
XM_005266430.3:c.4122G>T	XP_005266487.1:p.Lys1374Asn
XM_005266431.2:c.4086G>T	XP_005266488.1:p.Lys1362Asn
XM_005266432.2:c.3636G>T	XP_005266489.1:p.Lys1212Asn
XM_006719837.2:c.4026G>T	XP_006719900.1:p.Lys1342Asn
XM_006719838.1:c.1938G>T	XP_006719901.1:p.Lys646Asn
XM_006719839.1:c.1755G>T	XP_006719902.1:p.Lys585Asn
XM_011535117.1:c.4026G>T	XP_011533419.1:p.Lys1342Asn
XM_011535118.1:c.3987G>T	XP_011533420.1:p.Lys1329Asn
XM_011535119.1:c.3939G>T	XP_011533421.1:p.Lys1313Asn
XM_011535120.1:c.3708G>T	XP_011533422.1:p.Lys1236Asn
XM_011535121.1:c.3609G>T	XP_011533423.1:p.Lys1203Asn
XM_011535122.1:c.2790G>T	XP_011533424.1:p.Lys930Asn
XR_941601.1:n.4341G>T
XR_941602.1:n.4341G>T
XR_941603.1:n.4341G>T
XR_941604.1:n.4341G>T
NM_001330578.1:c.3888G>T	NP_001317507.1:p.Lys1296Asn
NM_001330579.1:c.3870G>T	NP_001317508.1:p.Lys1290Asn
XM_005266424.4:c.4026G>T	XP_005266481.1:p.Lys1342Asn
XM_005266430.4:c.4122G>T	XP_005266487.1:p.Lys1374Asn
XM_005266431.4:c.4086G>T	XP_005266488.1:p.Lys1362Asn
XM_006719837.3:c.4026G>T	XP_006719900.1:p.Lys1342Asn
XM_011535117.3:c.4026G>T	XP_011533419.1:p.Lys1342Asn
XM_017020627.1:c.4026G>T	XP_016876116.1:p.Lys1342Asn
NM_000053.4:c.4122G>T MANE Select	NP_000044.2:p.Lys1374Asn
NM_001005918.3:c.3501G>T	NP_001005918.1:p.Lys1167Asn
NM_001330579.2:c.3870G>T	NP_001317508.1:p.Lys1290Asn
NM_001243182.2:c.3789G>T	NP_001230111.1:p.Lys1263Asn
NM_001330578.2:c.3888G>T	NP_001317507.1:p.Lys1296Asn