Canonical Allele Identifier: CA388021185

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2145041
• ClinVar RCV Id: RCV003064824
• gnomAD v4: 13-51937368-C-T
• MyVariant Identifiers: chr13:g.52511504C>T (hg19) ; chr13:g.51937368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937368C>T , CM000675.2:g.51937368C>T	GRCh38
NC_000013.10:g.52511504C>T , CM000675.1:g.52511504C>T	GRCh37
NC_000013.9:g.51409505C>T	NCBI36
NG_008806.1:g.79127G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1579G>A	ENSP00000489512.2:n.*1579G>A
ENST00000673864.2:c.*2673G>A	ENSP00000501045.2:n.*2673G>A
ENST00000674147.2:c.3308G>A	ENSP00000500964.2:p.Ser1103Asn
ENST00000242839.10:c.3929G>A MANE Select	ENSP00000242839.5:p.Ser1310Asn
ENST00000344297.9:c.3308G>A	ENSP00000342559.5:p.Ser1103Asn
ENST00000400366.6:c.3596G>A	ENSP00000383217.3:p.Ser1199Asn
ENST00000448424.7:c.3677G>A	ENSP00000416738.3:p.Ser1226Asn
ENST00000673696.1:n.1252G>A
ENST00000673772.1:c.3695G>A	ENSP00000501168.1:p.Ser1232Asn
ENST00000673867.1:n.4068G>A
ENST00000673923.1:n.795G>A
ENST00000674147.1:c.2864G>A	ENSP00000500964.1:p.Ser955Asn
ENST00000242839.8:c.3929G>A	ENSP00000242839.4:p.Ser1310Asn
ENST00000344297.8:c.3308G>A	ENSP00000342559.5:p.Ser1103Asn
ENST00000400366.5:c.3596G>A	ENSP00000383217.3:p.Ser1199Asn
ENST00000400370.8:c.2639G>A	ENSP00000383221.3:p.Ser880Asn
ENST00000418097.7:c.3734G>A	ENSP00000393343.2:p.Ser1245Asn
ENST00000448424.6:c.3695G>A	ENSP00000416738.2:p.Ser1232Asn
ENST00000634296.1:c.1707G>A
ENST00000634308.1:c.*1030G>A	ENSP00000489234.1:n.*1030G>A
ENST00000634620.1:n.4673G>A
ENST00000634810.1:n.3274G>A
ENST00000634844.1:c.3785G>A	ENSP00000489398.1:p.Ser1262Asn
NM_000053.3:c.3929G>A	NP_000044.2:p.Ser1310Asn
NM_001005918.2:c.3308G>A	NP_001005918.1:p.Ser1103Asn
NM_001243182.1:c.3596G>A	NP_001230111.1:p.Ser1199Asn
XM_005266423.2:c.3833G>A	XP_005266480.1:p.Ser1278Asn
XM_005266424.3:c.3833G>A	XP_005266481.1:p.Ser1278Asn
XM_005266427.2:c.3695G>A	XP_005266484.1:p.Ser1232Asn
XM_005266428.1:c.3677G>A	XP_005266485.1:p.Ser1226Asn
XM_005266430.3:c.3929G>A	XP_005266487.1:p.Ser1310Asn
XM_005266431.2:c.3893G>A	XP_005266488.1:p.Ser1298Asn
XM_005266432.2:c.3443G>A	XP_005266489.1:p.Ser1148Asn
XM_006719837.2:c.3833G>A	XP_006719900.1:p.Ser1278Asn
XM_006719838.1:c.1745G>A	XP_006719901.1:p.Ser582Asn
XM_006719839.1:c.1562G>A	XP_006719902.1:p.Ser521Asn
XM_011535117.1:c.3833G>A	XP_011533419.1:p.Ser1278Asn
XM_011535118.1:c.3794G>A	XP_011533420.1:p.Ser1265Asn
XM_011535119.1:c.3746G>A	XP_011533421.1:p.Ser1249Asn
XM_011535120.1:c.3515G>A	XP_011533422.1:p.Ser1172Asn
XM_011535121.1:c.3416G>A	XP_011533423.1:p.Ser1139Asn
XM_011535122.1:c.2597G>A	XP_011533424.1:p.Ser866Asn
XR_941601.1:n.4148G>A
XR_941602.1:n.4148G>A
XR_941603.1:n.4148G>A
XR_941604.1:n.4148G>A
NM_001330578.1:c.3695G>A	NP_001317507.1:p.Ser1232Asn
NM_001330579.1:c.3677G>A	NP_001317508.1:p.Ser1226Asn
XM_005266424.4:c.3833G>A	XP_005266481.1:p.Ser1278Asn
XM_005266430.4:c.3929G>A	XP_005266487.1:p.Ser1310Asn
XM_005266431.4:c.3893G>A	XP_005266488.1:p.Ser1298Asn
XM_006719837.3:c.3833G>A	XP_006719900.1:p.Ser1278Asn
XM_011535117.3:c.3833G>A	XP_011533419.1:p.Ser1278Asn
XM_017020627.1:c.3833G>A	XP_016876116.1:p.Ser1278Asn
NM_000053.4:c.3929G>A MANE Select	NP_000044.2:p.Ser1310Asn
NM_001005918.3:c.3308G>A	NP_001005918.1:p.Ser1103Asn
NM_001330579.2:c.3677G>A	NP_001317508.1:p.Ser1226Asn
NM_001243182.2:c.3596G>A	NP_001230111.1:p.Ser1199Asn
NM_001330578.2:c.3695G>A	NP_001317507.1:p.Ser1232Asn