Canonical Allele Identifier: CA610425744

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2739979
• ClinVar RCV Id: RCV003502143
• dbSNP Id: rs1261463105
• gnomAD v2: 13-52511595-G-C
• gnomAD v4: 13-51937459-G-C
• MyVariant Identifiers: chr13:g.52511595G>C (hg19) ; chr13:g.51937459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937459G>C , CM000675.2:g.51937459G>C	GRCh38
NC_000013.10:g.52511595G>C , CM000675.1:g.52511595G>C	GRCh37
NC_000013.9:g.51409596G>C	NCBI36
NG_008806.1:g.79036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1553+17C>G	ENSP00000489512.2:n.*1553+17C>G
ENST00000673864.2:c.*2647+17C>G	ENSP00000501045.2:n.*2647+17C>G
ENST00000674147.2:c.3282+17C>G	ENSP00000500964.2:n.3282+17C>G
ENST00000242839.10:c.3903+17C>G MANE Select	ENSP00000242839.5:n.3903+17C>G
ENST00000344297.9:c.3282+17C>G	ENSP00000342559.5:n.3282+17C>G
ENST00000400366.6:c.3570+17C>G	ENSP00000383217.3:n.3570+17C>G
ENST00000448424.7:c.3651+17C>G	ENSP00000416738.3:n.3651+17C>G
ENST00000673696.1:n.1161C>G
ENST00000673772.1:c.3669+17C>G	ENSP00000501168.1:n.3669+17C>G
ENST00000673867.1:n.4042+17C>G
ENST00000673923.1:n.769+17C>G
ENST00000674147.1:c.2838+17C>G	ENSP00000500964.1:n.2838+17C>G
ENST00000242839.8:c.3903+17C>G	ENSP00000242839.4:n.3903+17C>G
ENST00000344297.8:c.3282+17C>G	ENSP00000342559.5:n.3282+17C>G
ENST00000400366.5:c.3570+17C>G	ENSP00000383217.3:n.3570+17C>G
ENST00000400370.8:c.2613+17C>G	ENSP00000383221.3:n.2613+17C>G
ENST00000418097.7:c.3708+17C>G	ENSP00000393343.2:n.3708+17C>G
ENST00000448424.6:c.3669+17C>G	ENSP00000416738.2:n.3669+17C>G
ENST00000634296.1:c.1681+17C>G
ENST00000634308.1:c.*1004+17C>G	ENSP00000489234.1:n.*1004+17C>G
ENST00000634620.1:n.4647+17C>G
ENST00000634810.1:n.3248+17C>G
ENST00000634844.1:c.3759+17C>G	ENSP00000489398.1:n.3759+17C>G
NM_000053.3:c.3903+17C>G	NP_000044.2:n.3903+17C>G
NM_001005918.2:c.3282+17C>G	NP_001005918.1:n.3282+17C>G
NM_001243182.1:c.3570+17C>G	NP_001230111.1:n.3570+17C>G
XM_005266423.2:c.3807+17C>G	XP_005266480.1:n.3807+17C>G
XM_005266424.3:c.3807+17C>G	XP_005266481.1:n.3807+17C>G
XM_005266427.2:c.3669+17C>G	XP_005266484.1:n.3669+17C>G
XM_005266428.1:c.3651+17C>G	XP_005266485.1:n.3651+17C>G
XM_005266430.3:c.3903+17C>G	XP_005266487.1:n.3903+17C>G
XM_005266431.2:c.3867+17C>G	XP_005266488.1:n.3867+17C>G
XM_005266432.2:c.3417+17C>G	XP_005266489.1:n.3417+17C>G
XM_006719837.2:c.3807+17C>G	XP_006719900.1:n.3807+17C>G
XM_006719838.1:c.1719+17C>G	XP_006719901.1:n.1719+17C>G
XM_006719839.1:c.1536+17C>G	XP_006719902.1:n.1536+17C>G
XM_011535117.1:c.3807+17C>G	XP_011533419.1:n.3807+17C>G
XM_011535118.1:c.3768+17C>G	XP_011533420.1:n.3768+17C>G
XM_011535119.1:c.3720+17C>G	XP_011533421.1:n.3720+17C>G
XM_011535120.1:c.3489+17C>G	XP_011533422.1:n.3489+17C>G
XM_011535121.1:c.3390+17C>G	XP_011533423.1:n.3390+17C>G
XM_011535122.1:c.2571+17C>G	XP_011533424.1:n.2571+17C>G
XR_941601.1:n.4122+17C>G
XR_941602.1:n.4122+17C>G
XR_941603.1:n.4122+17C>G
XR_941604.1:n.4122+17C>G
NM_001330578.1:c.3669+17C>G	NP_001317507.1:n.3669+17C>G
NM_001330579.1:c.3651+17C>G	NP_001317508.1:n.3651+17C>G
XM_005266424.4:c.3807+17C>G	XP_005266481.1:n.3807+17C>G
XM_005266430.4:c.3903+17C>G	XP_005266487.1:n.3903+17C>G
XM_005266431.4:c.3867+17C>G	XP_005266488.1:n.3867+17C>G
XM_006719837.3:c.3807+17C>G	XP_006719900.1:n.3807+17C>G
XM_011535117.3:c.3807+17C>G	XP_011533419.1:n.3807+17C>G
XM_017020627.1:c.3807+17C>G	XP_016876116.1:n.3807+17C>G
NM_000053.4:c.3903+17C>G MANE Select	NP_000044.2:n.3903+17C>G
NM_001005918.3:c.3282+17C>G	NP_001005918.1:n.3282+17C>G
NM_001330579.2:c.3651+17C>G	NP_001317508.1:n.3651+17C>G
NM_001243182.2:c.3570+17C>G	NP_001230111.1:n.3570+17C>G
NM_001330578.2:c.3669+17C>G	NP_001317507.1:n.3669+17C>G