Canonical Allele Identifier: CA388026675

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515330A>C (hg19) ; chr13:g.51941194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941194A>C , CM000675.2:g.51941194A>C	GRCh38
NC_000013.10:g.52515330A>C , CM000675.1:g.52515330A>C	GRCh37
NC_000013.9:g.51413331A>C	NCBI36
NG_008806.1:g.75301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1093T>G	ENSP00000489512.2:n.*1093T>G
ENST00000673864.2:c.*2187T>G	ENSP00000501045.2:n.*2187T>G
ENST00000674147.2:c.2822T>G	ENSP00000500964.2:p.Ile941Ser
ENST00000242839.10:c.3443T>G MANE Select	ENSP00000242839.5:p.Ile1148Ser
ENST00000344297.9:c.2822T>G	ENSP00000342559.5:p.Ile941Ser
ENST00000400366.6:c.3110T>G	ENSP00000383217.3:p.Ile1037Ser
ENST00000448424.7:c.3191T>G	ENSP00000416738.3:p.Ile1064Ser
ENST00000673772.1:c.3209T>G	ENSP00000501168.1:p.Ile1070Ser
ENST00000673867.1:n.3582T>G
ENST00000674126.1:n.3806T>G
ENST00000674147.1:c.2378T>G	ENSP00000500964.1:p.Ile793Ser
ENST00000242839.8:c.3443T>G	ENSP00000242839.4:p.Ile1148Ser
ENST00000344297.8:c.2822T>G	ENSP00000342559.5:p.Ile941Ser
ENST00000400366.5:c.3110T>G	ENSP00000383217.3:p.Ile1037Ser
ENST00000400370.8:c.2153T>G	ENSP00000383221.3:p.Ile718Ser
ENST00000418097.7:c.3248T>G	ENSP00000393343.2:p.Ile1083Ser
ENST00000448424.6:c.3209T>G	ENSP00000416738.2:p.Ile1070Ser
ENST00000634296.1:c.1221T>G
ENST00000634308.1:c.*544T>G	ENSP00000489234.1:n.*544T>G
ENST00000634620.1:n.4187T>G
ENST00000634810.1:n.2788T>G
ENST00000634844.1:c.3299T>G	ENSP00000489398.1:p.Ile1100Ser
NM_000053.3:c.3443T>G	NP_000044.2:p.Ile1148Ser
NM_001005918.2:c.2822T>G	NP_001005918.1:p.Ile941Ser
NM_001243182.1:c.3110T>G	NP_001230111.1:p.Ile1037Ser
XM_005266423.2:c.3347T>G	XP_005266480.1:p.Ile1116Ser
XM_005266424.3:c.3347T>G	XP_005266481.1:p.Ile1116Ser
XM_005266427.2:c.3209T>G	XP_005266484.1:p.Ile1070Ser
XM_005266428.1:c.3191T>G	XP_005266485.1:p.Ile1064Ser
XM_005266430.3:c.3443T>G	XP_005266487.1:p.Ile1148Ser
XM_005266431.2:c.3407T>G	XP_005266488.1:p.Ile1136Ser
XM_005266432.2:c.2957T>G	XP_005266489.1:p.Ile986Ser
XM_006719837.2:c.3347T>G	XP_006719900.1:p.Ile1116Ser
XM_006719838.1:c.1259T>G	XP_006719901.1:p.Ile420Ser
XM_006719839.1:c.1076T>G	XP_006719902.1:p.Ile359Ser
XM_011535117.1:c.3347T>G	XP_011533419.1:p.Ile1116Ser
XM_011535118.1:c.3308T>G	XP_011533420.1:p.Ile1103Ser
XM_011535119.1:c.3260T>G	XP_011533421.1:p.Ile1087Ser
XM_011535120.1:c.3029T>G	XP_011533422.1:p.Ile1010Ser
XM_011535121.1:c.2930T>G	XP_011533423.1:p.Ile977Ser
XM_011535122.1:c.2111T>G	XP_011533424.1:p.Ile704Ser
XR_941601.1:n.3662T>G
XR_941602.1:n.3662T>G
XR_941603.1:n.3662T>G
XR_941604.1:n.3662T>G
NM_001330578.1:c.3209T>G	NP_001317507.1:p.Ile1070Ser
NM_001330579.1:c.3191T>G	NP_001317508.1:p.Ile1064Ser
XM_005266424.4:c.3347T>G	XP_005266481.1:p.Ile1116Ser
XM_005266430.4:c.3443T>G	XP_005266487.1:p.Ile1148Ser
XM_005266431.4:c.3407T>G	XP_005266488.1:p.Ile1136Ser
XM_006719837.3:c.3347T>G	XP_006719900.1:p.Ile1116Ser
XM_011535117.3:c.3347T>G	XP_011533419.1:p.Ile1116Ser
XM_017020627.1:c.3347T>G	XP_016876116.1:p.Ile1116Ser
NM_000053.4:c.3443T>G MANE Select	NP_000044.2:p.Ile1148Ser
NM_001005918.3:c.2822T>G	NP_001005918.1:p.Ile941Ser
NM_001330579.2:c.3191T>G	NP_001317508.1:p.Ile1064Ser
NM_001243182.2:c.3110T>G	NP_001230111.1:p.Ile1037Ser
NM_001330578.2:c.3209T>G	NP_001317507.1:p.Ile1070Ser