Canonical Allele Identifier: CA388019934

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 551653
• ClinVar RCV Id: RCV000666773
• dbSNP Id: rs1365425480
• gnomAD v2: 13-52509729-C-G
• gnomAD v4: 13-51935593-C-G
• MyVariant Identifiers: chr13:g.52509729C>G (hg19) ; chr13:g.51935593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935593C>G , CM000675.2:g.51935593C>G	GRCh38
NC_000013.10:g.52509729C>G , CM000675.1:g.52509729C>G	GRCh37
NC_000013.9:g.51407730C>G	NCBI36
NG_008806.1:g.80902G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1774G>C	ENSP00000489512.2:n.*1774G>C
ENST00000673864.2:c.*2868G>C	ENSP00000501045.2:n.*2868G>C
ENST00000674147.2:c.3503G>C	ENSP00000500964.2:p.Cys1168Ser
ENST00000242839.10:c.4124G>C MANE Select	ENSP00000242839.5:p.Cys1375Ser
ENST00000344297.9:c.3503G>C	ENSP00000342559.5:p.Cys1168Ser
ENST00000400366.6:c.3791G>C	ENSP00000383217.3:p.Cys1264Ser
ENST00000448424.7:c.3872G>C	ENSP00000416738.3:p.Cys1291Ser
ENST00000673696.1:n.1447G>C
ENST00000673772.1:c.3890G>C	ENSP00000501168.1:p.Cys1297Ser
ENST00000673867.1:n.4263G>C
ENST00000673923.1:n.990G>C
ENST00000674147.1:c.3059G>C	ENSP00000500964.1:p.Cys1020Ser
ENST00000242839.8:c.4124G>C	ENSP00000242839.4:p.Cys1375Ser
ENST00000344297.8:c.3503G>C	ENSP00000342559.5:p.Cys1168Ser
ENST00000400366.5:c.3791G>C	ENSP00000383217.3:p.Cys1264Ser
ENST00000400370.8:c.2834G>C	ENSP00000383221.3:p.Cys945Ser
ENST00000418097.7:c.3929G>C	ENSP00000393343.2:p.Cys1310Ser
ENST00000448424.6:c.3890G>C	ENSP00000416738.2:p.Cys1297Ser
ENST00000634296.1:c.1902G>C
ENST00000634308.1:c.*1225G>C	ENSP00000489234.1:n.*1225G>C
ENST00000634620.1:n.4868G>C
ENST00000634810.1:n.3469G>C
ENST00000634844.1:c.3980G>C	ENSP00000489398.1:p.Cys1327Ser
NM_000053.3:c.4124G>C	NP_000044.2:p.Cys1375Ser
NM_001005918.2:c.3503G>C	NP_001005918.1:p.Cys1168Ser
NM_001243182.1:c.3791G>C	NP_001230111.1:p.Cys1264Ser
XM_005266423.2:c.4028G>C	XP_005266480.1:p.Cys1343Ser
XM_005266424.3:c.4028G>C	XP_005266481.1:p.Cys1343Ser
XM_005266427.2:c.3890G>C	XP_005266484.1:p.Cys1297Ser
XM_005266428.1:c.3872G>C	XP_005266485.1:p.Cys1291Ser
XM_005266430.3:c.4124G>C	XP_005266487.1:p.Cys1375Ser
XM_005266431.2:c.4088G>C	XP_005266488.1:p.Cys1363Ser
XM_005266432.2:c.3638G>C	XP_005266489.1:p.Cys1213Ser
XM_006719837.2:c.4028G>C	XP_006719900.1:p.Cys1343Ser
XM_006719838.1:c.1940G>C	XP_006719901.1:p.Cys647Ser
XM_006719839.1:c.1757G>C	XP_006719902.1:p.Cys586Ser
XM_011535117.1:c.4028G>C	XP_011533419.1:p.Cys1343Ser
XM_011535118.1:c.3989G>C	XP_011533420.1:p.Cys1330Ser
XM_011535119.1:c.3941G>C	XP_011533421.1:p.Cys1314Ser
XM_011535120.1:c.3710G>C	XP_011533422.1:p.Cys1237Ser
XM_011535121.1:c.3611G>C	XP_011533423.1:p.Cys1204Ser
XM_011535122.1:c.2792G>C	XP_011533424.1:p.Cys931Ser
XR_941601.1:n.4343G>C
XR_941602.1:n.4343G>C
XR_941603.1:n.4343G>C
XR_941604.1:n.4343G>C
NM_001330578.1:c.3890G>C	NP_001317507.1:p.Cys1297Ser
NM_001330579.1:c.3872G>C	NP_001317508.1:p.Cys1291Ser
XM_005266424.4:c.4028G>C	XP_005266481.1:p.Cys1343Ser
XM_005266430.4:c.4124G>C	XP_005266487.1:p.Cys1375Ser
XM_005266431.4:c.4088G>C	XP_005266488.1:p.Cys1363Ser
XM_006719837.3:c.4028G>C	XP_006719900.1:p.Cys1343Ser
XM_011535117.3:c.4028G>C	XP_011533419.1:p.Cys1343Ser
XM_017020627.1:c.4028G>C	XP_016876116.1:p.Cys1343Ser
NM_000053.4:c.4124G>C MANE Select	NP_000044.2:p.Cys1375Ser
NM_001005918.3:c.3503G>C	NP_001005918.1:p.Cys1168Ser
NM_001330579.2:c.3872G>C	NP_001317508.1:p.Cys1291Ser
NM_001243182.2:c.3791G>C	NP_001230111.1:p.Cys1264Ser
NM_001330578.2:c.3890G>C	NP_001317507.1:p.Cys1297Ser