Canonical Allele Identifier: CA6988500

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1525910
• ClinVar RCV Id: RCV002037041
• dbSNP Id: rs374924611
• ExAC: 13:52509808 C / G
• gnomAD v2: 13-52509808-C-G
• gnomAD v3: 13-51935672-C-G
• gnomAD v4: 13-51935672-C-G
• MyVariant Identifiers: chr13:g.52509808C>G (hg19) ; chr13:g.51935672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935672C>G , CM000675.2:g.51935672C>G	GRCh38
NC_000013.10:g.52509808C>G , CM000675.1:g.52509808C>G	GRCh37
NC_000013.9:g.51407809C>G	NCBI36
NG_008806.1:g.80823G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1695G>C	ENSP00000489512.2:n.*1695G>C
ENST00000673864.2:c.*2789G>C	ENSP00000501045.2:n.*2789G>C
ENST00000674147.2:c.3424G>C	ENSP00000500964.2:p.Val1142Leu
ENST00000242839.10:c.4045G>C MANE Select	ENSP00000242839.5:p.Val1349Leu
ENST00000344297.9:c.3424G>C	ENSP00000342559.5:p.Val1142Leu
ENST00000400366.6:c.3712G>C	ENSP00000383217.3:p.Val1238Leu
ENST00000448424.7:c.3793G>C	ENSP00000416738.3:p.Val1265Leu
ENST00000673696.1:n.1368G>C
ENST00000673772.1:c.3811G>C	ENSP00000501168.1:p.Val1271Leu
ENST00000673867.1:n.4184G>C
ENST00000673923.1:n.911G>C
ENST00000674147.1:c.2980G>C	ENSP00000500964.1:p.Val994Leu
ENST00000242839.8:c.4045G>C	ENSP00000242839.4:p.Val1349Leu
ENST00000344297.8:c.3424G>C	ENSP00000342559.5:p.Val1142Leu
ENST00000400366.5:c.3712G>C	ENSP00000383217.3:p.Val1238Leu
ENST00000400370.8:c.2755G>C	ENSP00000383221.3:p.Val919Leu
ENST00000418097.7:c.3850G>C	ENSP00000393343.2:p.Val1284Leu
ENST00000448424.6:c.3811G>C	ENSP00000416738.2:p.Val1271Leu
ENST00000634296.1:c.1823G>C
ENST00000634308.1:c.*1146G>C	ENSP00000489234.1:n.*1146G>C
ENST00000634620.1:n.4789G>C
ENST00000634810.1:n.3390G>C
ENST00000634844.1:c.3901G>C	ENSP00000489398.1:p.Val1301Leu
NM_000053.3:c.4045G>C	NP_000044.2:p.Val1349Leu
NM_001005918.2:c.3424G>C	NP_001005918.1:p.Val1142Leu
NM_001243182.1:c.3712G>C	NP_001230111.1:p.Val1238Leu
XM_005266423.2:c.3949G>C	XP_005266480.1:p.Val1317Leu
XM_005266424.3:c.3949G>C	XP_005266481.1:p.Val1317Leu
XM_005266427.2:c.3811G>C	XP_005266484.1:p.Val1271Leu
XM_005266428.1:c.3793G>C	XP_005266485.1:p.Val1265Leu
XM_005266430.3:c.4045G>C	XP_005266487.1:p.Val1349Leu
XM_005266431.2:c.4009G>C	XP_005266488.1:p.Val1337Leu
XM_005266432.2:c.3559G>C	XP_005266489.1:p.Val1187Leu
XM_006719837.2:c.3949G>C	XP_006719900.1:p.Val1317Leu
XM_006719838.1:c.1861G>C	XP_006719901.1:p.Val621Leu
XM_006719839.1:c.1678G>C	XP_006719902.1:p.Val560Leu
XM_011535117.1:c.3949G>C	XP_011533419.1:p.Val1317Leu
XM_011535118.1:c.3910G>C	XP_011533420.1:p.Val1304Leu
XM_011535119.1:c.3862G>C	XP_011533421.1:p.Val1288Leu
XM_011535120.1:c.3631G>C	XP_011533422.1:p.Val1211Leu
XM_011535121.1:c.3532G>C	XP_011533423.1:p.Val1178Leu
XM_011535122.1:c.2713G>C	XP_011533424.1:p.Val905Leu
XR_941601.1:n.4264G>C
XR_941602.1:n.4264G>C
XR_941603.1:n.4264G>C
XR_941604.1:n.4264G>C
NM_001330578.1:c.3811G>C	NP_001317507.1:p.Val1271Leu
NM_001330579.1:c.3793G>C	NP_001317508.1:p.Val1265Leu
XM_005266424.4:c.3949G>C	XP_005266481.1:p.Val1317Leu
XM_005266430.4:c.4045G>C	XP_005266487.1:p.Val1349Leu
XM_005266431.4:c.4009G>C	XP_005266488.1:p.Val1337Leu
XM_006719837.3:c.3949G>C	XP_006719900.1:p.Val1317Leu
XM_011535117.3:c.3949G>C	XP_011533419.1:p.Val1317Leu
XM_017020627.1:c.3949G>C	XP_016876116.1:p.Val1317Leu
NM_000053.4:c.4045G>C MANE Select	NP_000044.2:p.Val1349Leu
NM_001005918.3:c.3424G>C	NP_001005918.1:p.Val1142Leu
NM_001330579.2:c.3793G>C	NP_001317508.1:p.Val1265Leu
NM_001243182.2:c.3712G>C	NP_001230111.1:p.Val1238Leu
NM_001330578.2:c.3811G>C	NP_001317507.1:p.Val1271Leu