Canonical Allele Identifier: CA388022324

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52532556A>G (hg19) ; chr13:g.51958420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958420A>G , CM000675.2:g.51958420A>G	GRCh38
NC_000013.10:g.52532556A>G , CM000675.1:g.52532556A>G	GRCh37
NC_000013.9:g.51430557A>G	NCBI36
NG_008806.1:g.58075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*79T>C	ENSP00000489512.2:n.*79T>C
ENST00000673864.2:c.*990T>C	ENSP00000501045.2:n.*990T>C
ENST00000674147.2:c.1870-813T>C	ENSP00000500964.2:n.1870-813T>C
ENST00000242839.10:c.2246T>C MANE Select	ENSP00000242839.5:p.Val749Ala
ENST00000344297.9:c.1870-813T>C	ENSP00000342559.5:n.1870-813T>C
ENST00000400366.6:c.1913T>C	ENSP00000383217.3:p.Val638Ala
ENST00000448424.7:c.1994T>C	ENSP00000416738.3:p.Val665Ala
ENST00000673772.1:c.2122-813T>C	ENSP00000501168.1:n.2122-813T>C
ENST00000674147.1:c.1426-813T>C	ENSP00000500964.1:n.1426-813T>C
ENST00000242839.8:c.2246T>C	ENSP00000242839.4:p.Val749Ala
ENST00000344297.8:c.1870-813T>C	ENSP00000342559.5:n.1870-813T>C
ENST00000400366.5:c.1913T>C	ENSP00000383217.3:p.Val638Ala
ENST00000400370.8:c.1286-8259T>C	ENSP00000383221.3:n.1286-8259T>C
ENST00000418097.7:c.2246T>C	ENSP00000393343.2:p.Val749Ala
ENST00000448424.6:c.2122-813T>C	ENSP00000416738.2:n.2122-813T>C
ENST00000482841.6:n.1789T>C
ENST00000634296.1:c.207T>C
ENST00000634308.1:c.2122-813T>C	ENSP00000489234.1:n.2122-813T>C
ENST00000634620.1:n.2341T>C
ENST00000634810.1:n.1591T>C
ENST00000634844.1:c.2122-20T>C	ENSP00000489398.1:n.2122-20T>C
ENST00000635406.1:n.212-11942T>C
NM_000053.3:c.2246T>C	NP_000044.2:p.Val749Ala
NM_001005918.2:c.1870-813T>C	NP_001005918.1:n.1870-813T>C
NM_001243182.1:c.1913T>C	NP_001230111.1:p.Val638Ala
XM_005266423.2:c.2150T>C	XP_005266480.1:p.Val717Ala
XM_005266424.3:c.2150T>C	XP_005266481.1:p.Val717Ala
XM_005266427.2:c.2122-813T>C	XP_005266484.1:n.2122-813T>C
XM_005266428.1:c.1994T>C	XP_005266485.1:p.Val665Ala
XM_005266430.3:c.2246T>C	XP_005266487.1:p.Val749Ala
XM_005266431.2:c.2210T>C	XP_005266488.1:p.Val737Ala
XM_005266432.2:c.1870-813T>C	XP_005266489.1:n.1870-813T>C
XM_006719837.2:c.2150T>C	XP_006719900.1:p.Val717Ala
XM_006719838.1:c.62T>C	XP_006719901.1:p.Val21Ala
XM_006719839.1:c.62T>C	XP_006719902.1:p.Val21Ala
XM_011535117.1:c.2150T>C	XP_011533419.1:p.Val717Ala
XM_011535118.1:c.2246T>C	XP_011533420.1:p.Val749Ala
XM_011535119.1:c.2246T>C	XP_011533421.1:p.Val749Ala
XM_011535120.1:c.1832T>C	XP_011533422.1:p.Val611Ala
XM_011535121.1:c.2246T>C	XP_011533423.1:p.Val749Ala
XM_011535122.1:c.914T>C	XP_011533424.1:p.Val305Ala
XR_941601.1:n.2465T>C
XR_941602.1:n.2465T>C
XR_941603.1:n.2465T>C
XR_941604.1:n.2465T>C
NM_001330578.1:c.2122-813T>C	NP_001317507.1:n.2122-813T>C
NM_001330579.1:c.1994T>C	NP_001317508.1:p.Val665Ala
XM_005266424.4:c.2150T>C	XP_005266481.1:p.Val717Ala
XM_005266430.4:c.2246T>C	XP_005266487.1:p.Val749Ala
XM_005266431.4:c.2210T>C	XP_005266488.1:p.Val737Ala
XM_006719837.3:c.2150T>C	XP_006719900.1:p.Val717Ala
XM_011535117.3:c.2150T>C	XP_011533419.1:p.Val717Ala
XM_017020627.1:c.2150T>C	XP_016876116.1:p.Val717Ala
NM_000053.4:c.2246T>C MANE Select	NP_000044.2:p.Val749Ala
NM_001005918.3:c.1870-813T>C	NP_001005918.1:n.1870-813T>C
NM_001330579.2:c.1994T>C	NP_001317508.1:p.Val665Ala
NM_001243182.2:c.1913T>C	NP_001230111.1:p.Val638Ala
NM_001330578.2:c.2122-813T>C	NP_001317507.1:n.2122-813T>C