Canonical Allele Identifier: CA388024554

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1513874
• ClinVar RCV Id: RCV002018502
• dbSNP Id: rs2138671758
• gnomAD v4: 13-51939166-G-A
• MyVariant Identifiers: chr13:g.52513302G>A (hg19) ; chr13:g.51939166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939166G>A , CM000675.2:g.51939166G>A	GRCh38
NC_000013.10:g.52513302G>A , CM000675.1:g.52513302G>A	GRCh37
NC_000013.9:g.51411303G>A	NCBI36
NG_008806.1:g.77329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1234C>T	ENSP00000489512.2:n.*1234C>T
ENST00000673864.2:c.*2328C>T	ENSP00000501045.2:n.*2328C>T
ENST00000674147.2:c.2963C>T	ENSP00000500964.2:p.Ala988Val
ENST00000242839.10:c.3584C>T MANE Select	ENSP00000242839.5:p.Ala1195Val
ENST00000344297.9:c.2963C>T	ENSP00000342559.5:p.Ala988Val
ENST00000400366.6:c.3251C>T	ENSP00000383217.3:p.Ala1084Val
ENST00000448424.7:c.3332C>T	ENSP00000416738.3:p.Ala1111Val
ENST00000673696.1:n.825C>T
ENST00000673772.1:c.3350C>T	ENSP00000501168.1:p.Ala1117Val
ENST00000673867.1:n.3723C>T
ENST00000673923.1:n.450C>T
ENST00000674147.1:c.2519C>T	ENSP00000500964.1:p.Ala840Val
ENST00000242839.8:c.3584C>T	ENSP00000242839.4:p.Ala1195Val
ENST00000344297.8:c.2963C>T	ENSP00000342559.5:p.Ala988Val
ENST00000400366.5:c.3251C>T	ENSP00000383217.3:p.Ala1084Val
ENST00000400370.8:c.2294C>T	ENSP00000383221.3:p.Ala765Val
ENST00000418097.7:c.3389C>T	ENSP00000393343.2:p.Ala1130Val
ENST00000448424.6:c.3350C>T	ENSP00000416738.2:p.Ala1117Val
ENST00000634296.1:c.1362C>T
ENST00000634308.1:c.*685C>T	ENSP00000489234.1:n.*685C>T
ENST00000634620.1:n.4328C>T
ENST00000634810.1:n.2929C>T
ENST00000634844.1:c.3440C>T	ENSP00000489398.1:p.Ala1147Val
NM_000053.3:c.3584C>T	NP_000044.2:p.Ala1195Val
NM_001005918.2:c.2963C>T	NP_001005918.1:p.Ala988Val
NM_001243182.1:c.3251C>T	NP_001230111.1:p.Ala1084Val
XM_005266423.2:c.3488C>T	XP_005266480.1:p.Ala1163Val
XM_005266424.3:c.3488C>T	XP_005266481.1:p.Ala1163Val
XM_005266427.2:c.3350C>T	XP_005266484.1:p.Ala1117Val
XM_005266428.1:c.3332C>T	XP_005266485.1:p.Ala1111Val
XM_005266430.3:c.3584C>T	XP_005266487.1:p.Ala1195Val
XM_005266431.2:c.3548C>T	XP_005266488.1:p.Ala1183Val
XM_005266432.2:c.3098C>T	XP_005266489.1:p.Ala1033Val
XM_006719837.2:c.3488C>T	XP_006719900.1:p.Ala1163Val
XM_006719838.1:c.1400C>T	XP_006719901.1:p.Ala467Val
XM_006719839.1:c.1217C>T	XP_006719902.1:p.Ala406Val
XM_011535117.1:c.3488C>T	XP_011533419.1:p.Ala1163Val
XM_011535118.1:c.3449C>T	XP_011533420.1:p.Ala1150Val
XM_011535119.1:c.3401C>T	XP_011533421.1:p.Ala1134Val
XM_011535120.1:c.3170C>T	XP_011533422.1:p.Ala1057Val
XM_011535121.1:c.3071C>T	XP_011533423.1:p.Ala1024Val
XM_011535122.1:c.2252C>T	XP_011533424.1:p.Ala751Val
XR_941601.1:n.3803C>T
XR_941602.1:n.3803C>T
XR_941603.1:n.3803C>T
XR_941604.1:n.3803C>T
NM_001330578.1:c.3350C>T	NP_001317507.1:p.Ala1117Val
NM_001330579.1:c.3332C>T	NP_001317508.1:p.Ala1111Val
XM_005266424.4:c.3488C>T	XP_005266481.1:p.Ala1163Val
XM_005266430.4:c.3584C>T	XP_005266487.1:p.Ala1195Val
XM_005266431.4:c.3548C>T	XP_005266488.1:p.Ala1183Val
XM_006719837.3:c.3488C>T	XP_006719900.1:p.Ala1163Val
XM_011535117.3:c.3488C>T	XP_011533419.1:p.Ala1163Val
XM_017020627.1:c.3488C>T	XP_016876116.1:p.Ala1163Val
NM_000053.4:c.3584C>T MANE Select	NP_000044.2:p.Ala1195Val
NM_001005918.3:c.2963C>T	NP_001005918.1:p.Ala988Val
NM_001330579.2:c.3332C>T	NP_001317508.1:p.Ala1111Val
NM_001243182.2:c.3251C>T	NP_001230111.1:p.Ala1084Val
NM_001330578.2:c.3350C>T	NP_001317507.1:p.Ala1117Val