Canonical Allele Identifier: CA388025907

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1201T>G	ENSP00000489512.2:n.*1201T>G
ENST00000673864.2:c.*2295T>G	ENSP00000501045.2:n.*2295T>G
ENST00000674147.2:c.2930T>G	ENSP00000500964.2:p.Ile977Ser
ENST00000242839.10:c.3551T>G MANE Select	ENSP00000242839.5:p.Ile1184Ser
ENST00000344297.9:c.2930T>G	ENSP00000342559.5:p.Ile977Ser
ENST00000400366.6:c.3218T>G	ENSP00000383217.3:p.Ile1073Ser
ENST00000448424.7:c.3299T>G	ENSP00000416738.3:p.Ile1100Ser
ENST00000673772.1:c.3317T>G	ENSP00000501168.1:p.Ile1106Ser
ENST00000673867.1:n.3690T>G
ENST00000674126.1:n.3914T>G
ENST00000674147.1:c.2486T>G	ENSP00000500964.1:p.Ile829Ser
ENST00000242839.8:c.3551T>G	ENSP00000242839.4:p.Ile1184Ser
ENST00000344297.8:c.2930T>G	ENSP00000342559.5:p.Ile977Ser
ENST00000400366.5:c.3218T>G	ENSP00000383217.3:p.Ile1073Ser
ENST00000400370.8:c.2261T>G	ENSP00000383221.3:p.Ile754Ser
ENST00000418097.7:c.3356T>G	ENSP00000393343.2:p.Ile1119Ser
ENST00000448424.6:c.3317T>G	ENSP00000416738.2:p.Ile1106Ser
ENST00000634296.1:c.1329T>G
ENST00000634308.1:c.*652T>G	ENSP00000489234.1:n.*652T>G
ENST00000634620.1:n.4295T>G
ENST00000634810.1:n.2896T>G
ENST00000634844.1:c.3407T>G	ENSP00000489398.1:p.Ile1136Ser
NM_000053.3:c.3551T>G	NP_000044.2:p.Ile1184Ser
NM_001005918.2:c.2930T>G	NP_001005918.1:p.Ile977Ser
NM_001243182.1:c.3218T>G	NP_001230111.1:p.Ile1073Ser
XM_005266423.2:c.3455T>G	XP_005266480.1:p.Ile1152Ser
XM_005266424.3:c.3455T>G	XP_005266481.1:p.Ile1152Ser
XM_005266427.2:c.3317T>G	XP_005266484.1:p.Ile1106Ser
XM_005266428.1:c.3299T>G	XP_005266485.1:p.Ile1100Ser
XM_005266430.3:c.3551T>G	XP_005266487.1:p.Ile1184Ser
XM_005266431.2:c.3515T>G	XP_005266488.1:p.Ile1172Ser
XM_005266432.2:c.3065T>G	XP_005266489.1:p.Ile1022Ser
XM_006719837.2:c.3455T>G	XP_006719900.1:p.Ile1152Ser
XM_006719838.1:c.1367T>G	XP_006719901.1:p.Ile456Ser
XM_006719839.1:c.1184T>G	XP_006719902.1:p.Ile395Ser
XM_011535117.1:c.3455T>G	XP_011533419.1:p.Ile1152Ser
XM_011535118.1:c.3416T>G	XP_011533420.1:p.Ile1139Ser
XM_011535119.1:c.3368T>G	XP_011533421.1:p.Ile1123Ser
XM_011535120.1:c.3137T>G	XP_011533422.1:p.Ile1046Ser
XM_011535121.1:c.3038T>G	XP_011533423.1:p.Ile1013Ser
XM_011535122.1:c.2219T>G	XP_011533424.1:p.Ile740Ser
XR_941601.1:n.3770T>G
XR_941602.1:n.3770T>G
XR_941603.1:n.3770T>G
XR_941604.1:n.3770T>G
NM_001330578.1:c.3317T>G	NP_001317507.1:p.Ile1106Ser
NM_001330579.1:c.3299T>G	NP_001317508.1:p.Ile1100Ser
XM_005266424.4:c.3455T>G	XP_005266481.1:p.Ile1152Ser
XM_005266430.4:c.3551T>G	XP_005266487.1:p.Ile1184Ser
XM_005266431.4:c.3515T>G	XP_005266488.1:p.Ile1172Ser
XM_006719837.3:c.3455T>G	XP_006719900.1:p.Ile1152Ser
XM_011535117.3:c.3455T>G	XP_011533419.1:p.Ile1152Ser
XM_017020627.1:c.3455T>G	XP_016876116.1:p.Ile1152Ser
NM_000053.4:c.3551T>G MANE Select	NP_000044.2:p.Ile1184Ser
NM_001005918.3:c.2930T>G	NP_001005918.1:p.Ile977Ser
NM_001330579.2:c.3299T>G	NP_001317508.1:p.Ile1100Ser
NM_001243182.2:c.3218T>G	NP_001230111.1:p.Ile1073Ser
NM_001330578.2:c.3317T>G	NP_001317507.1:p.Ile1106Ser