Canonical Allele Identifier: CA6988419

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2156192
• ClinVar RCV Id: RCV003090856
• dbSNP Id: rs764383437
• ExAC: 13:52508963 C / T
• gnomAD v2: 13-52508963-C-T
• gnomAD v3: 13-51934827-C-T
• gnomAD v4: 13-51934827-C-T
• MyVariant Identifiers: chr13:g.52508963C>T (hg19) ; chr13:g.51934827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934827C>T , CM000675.2:g.51934827C>T	GRCh38
NC_000013.10:g.52508963C>T , CM000675.1:g.52508963C>T	GRCh37
NC_000013.9:g.51406964C>T	NCBI36
NG_008806.1:g.81668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1977G>A	ENSP00000489512.2:n.*1977G>A
ENST00000673864.2:c.*3071G>A	ENSP00000501045.2:n.*3071G>A
ENST00000674147.2:c.3706G>A	ENSP00000500964.2:p.Ala1236Thr
ENST00000242839.10:c.4327G>A MANE Select	ENSP00000242839.5:p.Ala1443Thr
ENST00000344297.9:c.3706G>A	ENSP00000342559.5:p.Ala1236Thr
ENST00000400366.6:c.3994G>A	ENSP00000383217.3:p.Ala1332Thr
ENST00000448424.7:c.4075G>A	ENSP00000416738.3:p.Ala1359Thr
ENST00000673696.1:n.1650G>A
ENST00000673772.1:c.4093G>A	ENSP00000501168.1:p.Ala1365Thr
ENST00000673867.1:n.4466G>A
ENST00000673923.1:n.1193G>A
ENST00000674147.1:c.3262G>A	ENSP00000500964.1:p.Ala1088Thr
ENST00000242839.8:c.4327G>A	ENSP00000242839.4:p.Ala1443Thr
ENST00000344297.8:c.3706G>A	ENSP00000342559.5:p.Ala1236Thr
ENST00000400366.5:c.3994G>A	ENSP00000383217.3:p.Ala1332Thr
ENST00000400370.8:c.3037G>A	ENSP00000383221.3:p.Ala1013Thr
ENST00000418097.7:c.4132G>A	ENSP00000393343.2:p.Ala1378Thr
ENST00000448424.6:c.4093G>A	ENSP00000416738.2:p.Ala1365Thr
ENST00000634296.1:c.2105G>A
ENST00000634308.1:c.*1428G>A	ENSP00000489234.1:n.*1428G>A
ENST00000634620.1:n.5071G>A
ENST00000634810.1:n.3672G>A
ENST00000634844.1:c.4183G>A	ENSP00000489398.1:p.Ala1395Thr
NM_000053.3:c.4327G>A	NP_000044.2:p.Ala1443Thr
NM_001005918.2:c.3706G>A	NP_001005918.1:p.Ala1236Thr
NM_001243182.1:c.3994G>A	NP_001230111.1:p.Ala1332Thr
XM_005266423.2:c.4231G>A	XP_005266480.1:p.Ala1411Thr
XM_005266424.3:c.4231G>A	XP_005266481.1:p.Ala1411Thr
XM_005266427.2:c.4093G>A	XP_005266484.1:p.Ala1365Thr
XM_005266428.1:c.4075G>A	XP_005266485.1:p.Ala1359Thr
XM_005266430.3:c.4327G>A	XP_005266487.1:p.Ala1443Thr
XM_005266431.2:c.4291G>A	XP_005266488.1:p.Ala1431Thr
XM_005266432.2:c.3841G>A	XP_005266489.1:p.Ala1281Thr
XM_006719837.2:c.4231G>A	XP_006719900.1:p.Ala1411Thr
XM_006719838.1:c.2143G>A	XP_006719901.1:p.Ala715Thr
XM_006719839.1:c.1960G>A	XP_006719902.1:p.Ala654Thr
XM_011535117.1:c.4231G>A	XP_011533419.1:p.Ala1411Thr
XM_011535118.1:c.4192G>A	XP_011533420.1:p.Ala1398Thr
XM_011535119.1:c.4144G>A	XP_011533421.1:p.Ala1382Thr
XM_011535120.1:c.3913G>A	XP_011533422.1:p.Ala1305Thr
XM_011535121.1:c.3814G>A	XP_011533423.1:p.Ala1272Thr
XM_011535122.1:c.2995G>A	XP_011533424.1:p.Ala999Thr
XR_941601.1:n.4546G>A
XR_941602.1:n.4546G>A
XR_941603.1:n.4546G>A
XR_941604.1:n.4546G>A
NM_001330578.1:c.4093G>A	NP_001317507.1:p.Ala1365Thr
NM_001330579.1:c.4075G>A	NP_001317508.1:p.Ala1359Thr
XM_005266424.4:c.4231G>A	XP_005266481.1:p.Ala1411Thr
XM_005266430.4:c.4327G>A	XP_005266487.1:p.Ala1443Thr
XM_005266431.4:c.4291G>A	XP_005266488.1:p.Ala1431Thr
XM_006719837.3:c.4231G>A	XP_006719900.1:p.Ala1411Thr
XM_011535117.3:c.4231G>A	XP_011533419.1:p.Ala1411Thr
XM_017020627.1:c.4231G>A	XP_016876116.1:p.Ala1411Thr
NM_000053.4:c.4327G>A MANE Select	NP_000044.2:p.Ala1443Thr
NM_001005918.3:c.3706G>A	NP_001005918.1:p.Ala1236Thr
NM_001330579.2:c.4075G>A	NP_001317508.1:p.Ala1359Thr
NM_001243182.2:c.3994G>A	NP_001230111.1:p.Ala1332Thr
NM_001330578.2:c.4093G>A	NP_001317507.1:p.Ala1365Thr