Canonical Allele Identifier: CA6989247

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 507142
• ClinVar RCV Id: RCV000613221 ; RCV002062904
• dbSNP Id: rs751612293
• ExAC: 13:52539183 T / C
• gnomAD v2: 13-52539183-T-C
• gnomAD v3: 13-51965047-T-C
• gnomAD v4: 13-51965047-T-C
• MyVariant Identifiers: chr13:g.52539183T>C (hg19) ; chr13:g.51965047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965047T>C , CM000675.2:g.51965047T>C	GRCh38
NC_000013.10:g.52539183T>C , CM000675.1:g.52539183T>C	GRCh37
NC_000013.9:g.51437184T>C	NCBI36
NG_008806.1:g.51448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1708-14A>G	ENSP00000489512.2:n.1708-14A>G
ENST00000673864.2:c.*452-14A>G	ENSP00000501045.2:n.*452-14A>G
ENST00000674147.2:c.1708-14A>G	ENSP00000500964.2:n.1708-14A>G
ENST00000242839.10:c.1708-14A>G MANE Select	ENSP00000242839.5:n.1708-14A>G
ENST00000344297.9:c.1708-14A>G	ENSP00000342559.5:n.1708-14A>G
ENST00000400366.6:c.1375-14A>G	ENSP00000383217.3:n.1375-14A>G
ENST00000448424.7:c.1708-14A>G	ENSP00000416738.3:n.1708-14A>G
ENST00000483772.2:n.464-14A>G
ENST00000673772.1:c.1708-14A>G	ENSP00000501168.1:n.1708-14A>G
ENST00000673864.1:c.902-14A>G	ENSP00000501045.1:n.902-14A>G
ENST00000674147.1:c.1264-14A>G	ENSP00000500964.1:n.1264-14A>G
ENST00000242839.8:c.1708-14A>G	ENSP00000242839.4:n.1708-14A>G
ENST00000344297.8:c.1708-14A>G	ENSP00000342559.5:n.1708-14A>G
ENST00000400366.5:c.1375-14A>G	ENSP00000383217.3:n.1375-14A>G
ENST00000400370.8:c.1285+8888A>G	ENSP00000383221.3:n.1285+8888A>G
ENST00000418097.7:c.1708-14A>G	ENSP00000393343.2:n.1708-14A>G
ENST00000448424.6:c.1708-14A>G	ENSP00000416738.2:n.1708-14A>G
ENST00000482841.6:n.1664+5445A>G
ENST00000483772.1:n.464-14A>G
ENST00000634308.1:c.1708-14A>G	ENSP00000489234.1:n.1708-14A>G
ENST00000634620.1:n.200-14A>G
ENST00000634844.1:c.1708-14A>G	ENSP00000489398.1:n.1708-14A>G
ENST00000635406.1:n.212-18569A>G
NM_000053.3:c.1708-14A>G	NP_000044.2:n.1708-14A>G
NM_001005918.2:c.1708-14A>G	NP_001005918.1:n.1708-14A>G
NM_001243182.1:c.1375-14A>G	NP_001230111.1:n.1375-14A>G
XM_005266423.2:c.1612-14A>G	XP_005266480.1:n.1612-14A>G
XM_005266424.3:c.1612-14A>G	XP_005266481.1:n.1612-14A>G
XM_005266427.2:c.1708-14A>G	XP_005266484.1:n.1708-14A>G
XM_005266428.1:c.1708-14A>G	XP_005266485.1:n.1708-14A>G
XM_005266430.3:c.1708-14A>G	XP_005266487.1:n.1708-14A>G
XM_005266431.2:c.1672-14A>G	XP_005266488.1:n.1672-14A>G
XM_005266432.2:c.1708-14A>G	XP_005266489.1:n.1708-14A>G
XM_006719837.2:c.1612-14A>G	XP_006719900.1:n.1612-14A>G
XM_011535117.1:c.1612-14A>G	XP_011533419.1:n.1612-14A>G
XM_011535118.1:c.1708-14A>G	XP_011533420.1:n.1708-14A>G
XM_011535119.1:c.1708-14A>G	XP_011533421.1:n.1708-14A>G
XM_011535120.1:c.1707+3397A>G	XP_011533422.1:n.1707+3397A>G
XM_011535121.1:c.1708-14A>G	XP_011533423.1:n.1708-14A>G
XM_011535122.1:c.376-14A>G	XP_011533424.1:n.376-14A>G
XR_941601.1:n.1927-14A>G
XR_941602.1:n.1927-14A>G
XR_941603.1:n.1927-14A>G
XR_941604.1:n.1927-14A>G
NM_001330578.1:c.1708-14A>G	NP_001317507.1:n.1708-14A>G
NM_001330579.1:c.1708-14A>G	NP_001317508.1:n.1708-14A>G
XM_005266424.4:c.1612-14A>G	XP_005266481.1:n.1612-14A>G
XM_005266430.4:c.1708-14A>G	XP_005266487.1:n.1708-14A>G
XM_005266431.4:c.1672-14A>G	XP_005266488.1:n.1672-14A>G
XM_006719837.3:c.1612-14A>G	XP_006719900.1:n.1612-14A>G
XM_011535117.3:c.1612-14A>G	XP_011533419.1:n.1612-14A>G
XM_017020627.1:c.1612-14A>G	XP_016876116.1:n.1612-14A>G
NM_000053.4:c.1708-14A>G MANE Select	NP_000044.2:n.1708-14A>G
NM_001005918.3:c.1708-14A>G	NP_001005918.1:n.1708-14A>G
NM_001330579.2:c.1708-14A>G	NP_001317508.1:n.1708-14A>G
NM_001243182.2:c.1375-14A>G	NP_001230111.1:n.1375-14A>G
NM_001330578.2:c.1708-14A>G	NP_001317507.1:n.1708-14A>G