Canonical Allele Identifier: CA388020758

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937279-C-G
• MyVariant Identifiers: chr13:g.52511415C>G (hg19) ; chr13:g.51937279C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937279C>G , CM000675.2:g.51937279C>G	GRCh38
NC_000013.10:g.52511415C>G , CM000675.1:g.52511415C>G	GRCh37
NC_000013.9:g.51409416C>G	NCBI36
NG_008806.1:g.79216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1668G>C	ENSP00000489512.2:n.*1668G>C
ENST00000673864.2:c.*2762G>C	ENSP00000501045.2:n.*2762G>C
ENST00000674147.2:c.3397G>C	ENSP00000500964.2:p.Ala1133Pro
ENST00000242839.10:c.4018G>C MANE Select	ENSP00000242839.5:p.Ala1340Pro
ENST00000344297.9:c.3397G>C	ENSP00000342559.5:p.Ala1133Pro
ENST00000400366.6:c.3685G>C	ENSP00000383217.3:p.Ala1229Pro
ENST00000448424.7:c.3766G>C	ENSP00000416738.3:p.Ala1256Pro
ENST00000673696.1:n.1341G>C
ENST00000673772.1:c.3784G>C	ENSP00000501168.1:p.Ala1262Pro
ENST00000673867.1:n.4157G>C
ENST00000673923.1:n.884G>C
ENST00000674147.1:c.2953G>C	ENSP00000500964.1:p.Ala985Pro
ENST00000242839.8:c.4018G>C	ENSP00000242839.4:p.Ala1340Pro
ENST00000344297.8:c.3397G>C	ENSP00000342559.5:p.Ala1133Pro
ENST00000400366.5:c.3685G>C	ENSP00000383217.3:p.Ala1229Pro
ENST00000400370.8:c.2728G>C	ENSP00000383221.3:p.Ala910Pro
ENST00000418097.7:c.3823G>C	ENSP00000393343.2:p.Ala1275Pro
ENST00000448424.6:c.3784G>C	ENSP00000416738.2:p.Ala1262Pro
ENST00000634296.1:c.1796G>C
ENST00000634308.1:c.*1119G>C	ENSP00000489234.1:n.*1119G>C
ENST00000634620.1:n.4762G>C
ENST00000634810.1:n.3363G>C
ENST00000634844.1:c.3874G>C	ENSP00000489398.1:p.Ala1292Pro
NM_000053.3:c.4018G>C	NP_000044.2:p.Ala1340Pro
NM_001005918.2:c.3397G>C	NP_001005918.1:p.Ala1133Pro
NM_001243182.1:c.3685G>C	NP_001230111.1:p.Ala1229Pro
XM_005266423.2:c.3922G>C	XP_005266480.1:p.Ala1308Pro
XM_005266424.3:c.3922G>C	XP_005266481.1:p.Ala1308Pro
XM_005266427.2:c.3784G>C	XP_005266484.1:p.Ala1262Pro
XM_005266428.1:c.3766G>C	XP_005266485.1:p.Ala1256Pro
XM_005266430.3:c.4018G>C	XP_005266487.1:p.Ala1340Pro
XM_005266431.2:c.3982G>C	XP_005266488.1:p.Ala1328Pro
XM_005266432.2:c.3532G>C	XP_005266489.1:p.Ala1178Pro
XM_006719837.2:c.3922G>C	XP_006719900.1:p.Ala1308Pro
XM_006719838.1:c.1834G>C	XP_006719901.1:p.Ala612Pro
XM_006719839.1:c.1651G>C	XP_006719902.1:p.Ala551Pro
XM_011535117.1:c.3922G>C	XP_011533419.1:p.Ala1308Pro
XM_011535118.1:c.3883G>C	XP_011533420.1:p.Ala1295Pro
XM_011535119.1:c.3835G>C	XP_011533421.1:p.Ala1279Pro
XM_011535120.1:c.3604G>C	XP_011533422.1:p.Ala1202Pro
XM_011535121.1:c.3505G>C	XP_011533423.1:p.Ala1169Pro
XM_011535122.1:c.2686G>C	XP_011533424.1:p.Ala896Pro
XR_941601.1:n.4237G>C
XR_941602.1:n.4237G>C
XR_941603.1:n.4237G>C
XR_941604.1:n.4237G>C
NM_001330578.1:c.3784G>C	NP_001317507.1:p.Ala1262Pro
NM_001330579.1:c.3766G>C	NP_001317508.1:p.Ala1256Pro
XM_005266424.4:c.3922G>C	XP_005266481.1:p.Ala1308Pro
XM_005266430.4:c.4018G>C	XP_005266487.1:p.Ala1340Pro
XM_005266431.4:c.3982G>C	XP_005266488.1:p.Ala1328Pro
XM_006719837.3:c.3922G>C	XP_006719900.1:p.Ala1308Pro
XM_011535117.3:c.3922G>C	XP_011533419.1:p.Ala1308Pro
XM_017020627.1:c.3922G>C	XP_016876116.1:p.Ala1308Pro
NM_000053.4:c.4018G>C MANE Select	NP_000044.2:p.Ala1340Pro
NM_001005918.3:c.3397G>C	NP_001005918.1:p.Ala1133Pro
NM_001330579.2:c.3766G>C	NP_001317508.1:p.Ala1256Pro
NM_001243182.2:c.3685G>C	NP_001230111.1:p.Ala1229Pro
NM_001330578.2:c.3784G>C	NP_001317507.1:p.Ala1262Pro