Canonical Allele Identifier: CA388025917

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515222A>T (hg19) ; chr13:g.51941086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941086A>T , CM000675.2:g.51941086A>T	GRCh38
NC_000013.10:g.52515222A>T , CM000675.1:g.52515222A>T	GRCh37
NC_000013.9:g.51413223A>T	NCBI36
NG_008806.1:g.75409T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1201T>A	ENSP00000489512.2:n.*1201T>A
ENST00000673864.2:c.*2295T>A	ENSP00000501045.2:n.*2295T>A
ENST00000674147.2:c.2930T>A	ENSP00000500964.2:p.Ile977Asn
ENST00000242839.10:c.3551T>A MANE Select	ENSP00000242839.5:p.Ile1184Asn
ENST00000344297.9:c.2930T>A	ENSP00000342559.5:p.Ile977Asn
ENST00000400366.6:c.3218T>A	ENSP00000383217.3:p.Ile1073Asn
ENST00000448424.7:c.3299T>A	ENSP00000416738.3:p.Ile1100Asn
ENST00000673772.1:c.3317T>A	ENSP00000501168.1:p.Ile1106Asn
ENST00000673867.1:n.3690T>A
ENST00000674126.1:n.3914T>A
ENST00000674147.1:c.2486T>A	ENSP00000500964.1:p.Ile829Asn
ENST00000242839.8:c.3551T>A	ENSP00000242839.4:p.Ile1184Asn
ENST00000344297.8:c.2930T>A	ENSP00000342559.5:p.Ile977Asn
ENST00000400366.5:c.3218T>A	ENSP00000383217.3:p.Ile1073Asn
ENST00000400370.8:c.2261T>A	ENSP00000383221.3:p.Ile754Asn
ENST00000418097.7:c.3356T>A	ENSP00000393343.2:p.Ile1119Asn
ENST00000448424.6:c.3317T>A	ENSP00000416738.2:p.Ile1106Asn
ENST00000634296.1:c.1329T>A
ENST00000634308.1:c.*652T>A	ENSP00000489234.1:n.*652T>A
ENST00000634620.1:n.4295T>A
ENST00000634810.1:n.2896T>A
ENST00000634844.1:c.3407T>A	ENSP00000489398.1:p.Ile1136Asn
NM_000053.3:c.3551T>A	NP_000044.2:p.Ile1184Asn
NM_001005918.2:c.2930T>A	NP_001005918.1:p.Ile977Asn
NM_001243182.1:c.3218T>A	NP_001230111.1:p.Ile1073Asn
XM_005266423.2:c.3455T>A	XP_005266480.1:p.Ile1152Asn
XM_005266424.3:c.3455T>A	XP_005266481.1:p.Ile1152Asn
XM_005266427.2:c.3317T>A	XP_005266484.1:p.Ile1106Asn
XM_005266428.1:c.3299T>A	XP_005266485.1:p.Ile1100Asn
XM_005266430.3:c.3551T>A	XP_005266487.1:p.Ile1184Asn
XM_005266431.2:c.3515T>A	XP_005266488.1:p.Ile1172Asn
XM_005266432.2:c.3065T>A	XP_005266489.1:p.Ile1022Asn
XM_006719837.2:c.3455T>A	XP_006719900.1:p.Ile1152Asn
XM_006719838.1:c.1367T>A	XP_006719901.1:p.Ile456Asn
XM_006719839.1:c.1184T>A	XP_006719902.1:p.Ile395Asn
XM_011535117.1:c.3455T>A	XP_011533419.1:p.Ile1152Asn
XM_011535118.1:c.3416T>A	XP_011533420.1:p.Ile1139Asn
XM_011535119.1:c.3368T>A	XP_011533421.1:p.Ile1123Asn
XM_011535120.1:c.3137T>A	XP_011533422.1:p.Ile1046Asn
XM_011535121.1:c.3038T>A	XP_011533423.1:p.Ile1013Asn
XM_011535122.1:c.2219T>A	XP_011533424.1:p.Ile740Asn
XR_941601.1:n.3770T>A
XR_941602.1:n.3770T>A
XR_941603.1:n.3770T>A
XR_941604.1:n.3770T>A
NM_001330578.1:c.3317T>A	NP_001317507.1:p.Ile1106Asn
NM_001330579.1:c.3299T>A	NP_001317508.1:p.Ile1100Asn
XM_005266424.4:c.3455T>A	XP_005266481.1:p.Ile1152Asn
XM_005266430.4:c.3551T>A	XP_005266487.1:p.Ile1184Asn
XM_005266431.4:c.3515T>A	XP_005266488.1:p.Ile1172Asn
XM_006719837.3:c.3455T>A	XP_006719900.1:p.Ile1152Asn
XM_011535117.3:c.3455T>A	XP_011533419.1:p.Ile1152Asn
XM_017020627.1:c.3455T>A	XP_016876116.1:p.Ile1152Asn
NM_000053.4:c.3551T>A MANE Select	NP_000044.2:p.Ile1184Asn
NM_001005918.3:c.2930T>A	NP_001005918.1:p.Ile977Asn
NM_001330579.2:c.3299T>A	NP_001317508.1:p.Ile1100Asn
NM_001243182.2:c.3218T>A	NP_001230111.1:p.Ile1073Asn
NM_001330578.2:c.3317T>A	NP_001317507.1:p.Ile1106Asn