Canonical Allele Identifier: CA388023927

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513237C>A (hg19) ; chr13:g.51939101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939101C>A , CM000675.2:g.51939101C>A	GRCh38
NC_000013.10:g.52513237C>A , CM000675.1:g.52513237C>A	GRCh37
NC_000013.9:g.51411238C>A	NCBI36
NG_008806.1:g.77394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1299G>T	ENSP00000489512.2:n.*1299G>T
ENST00000673864.2:c.*2393G>T	ENSP00000501045.2:n.*2393G>T
ENST00000674147.2:c.3028G>T	ENSP00000500964.2:p.Val1010Phe
ENST00000242839.10:c.3649G>T MANE Select	ENSP00000242839.5:p.Val1217Phe
ENST00000344297.9:c.3028G>T	ENSP00000342559.5:p.Val1010Phe
ENST00000400366.6:c.3316G>T	ENSP00000383217.3:p.Val1106Phe
ENST00000448424.7:c.3397G>T	ENSP00000416738.3:p.Val1133Phe
ENST00000673696.1:n.890G>T
ENST00000673772.1:c.3415G>T	ENSP00000501168.1:p.Val1139Phe
ENST00000673867.1:n.3788G>T
ENST00000673923.1:n.515G>T
ENST00000674147.1:c.2584G>T	ENSP00000500964.1:p.Val862Phe
ENST00000242839.8:c.3649G>T	ENSP00000242839.4:p.Val1217Phe
ENST00000344297.8:c.3028G>T	ENSP00000342559.5:p.Val1010Phe
ENST00000400366.5:c.3316G>T	ENSP00000383217.3:p.Val1106Phe
ENST00000400370.8:c.2359G>T	ENSP00000383221.3:p.Val787Phe
ENST00000418097.7:c.3454G>T	ENSP00000393343.2:p.Val1152Phe
ENST00000448424.6:c.3415G>T	ENSP00000416738.2:p.Val1139Phe
ENST00000634296.1:c.1427G>T
ENST00000634308.1:c.*750G>T	ENSP00000489234.1:n.*750G>T
ENST00000634620.1:n.4393G>T
ENST00000634810.1:n.2994G>T
ENST00000634844.1:c.3505G>T	ENSP00000489398.1:p.Val1169Phe
NM_000053.3:c.3649G>T	NP_000044.2:p.Val1217Phe
NM_001005918.2:c.3028G>T	NP_001005918.1:p.Val1010Phe
NM_001243182.1:c.3316G>T	NP_001230111.1:p.Val1106Phe
XM_005266423.2:c.3553G>T	XP_005266480.1:p.Val1185Phe
XM_005266424.3:c.3553G>T	XP_005266481.1:p.Val1185Phe
XM_005266427.2:c.3415G>T	XP_005266484.1:p.Val1139Phe
XM_005266428.1:c.3397G>T	XP_005266485.1:p.Val1133Phe
XM_005266430.3:c.3649G>T	XP_005266487.1:p.Val1217Phe
XM_005266431.2:c.3613G>T	XP_005266488.1:p.Val1205Phe
XM_005266432.2:c.3163G>T	XP_005266489.1:p.Val1055Phe
XM_006719837.2:c.3553G>T	XP_006719900.1:p.Val1185Phe
XM_006719838.1:c.1465G>T	XP_006719901.1:p.Val489Phe
XM_006719839.1:c.1282G>T	XP_006719902.1:p.Val428Phe
XM_011535117.1:c.3553G>T	XP_011533419.1:p.Val1185Phe
XM_011535118.1:c.3514G>T	XP_011533420.1:p.Val1172Phe
XM_011535119.1:c.3466G>T	XP_011533421.1:p.Val1156Phe
XM_011535120.1:c.3235G>T	XP_011533422.1:p.Val1079Phe
XM_011535121.1:c.3136G>T	XP_011533423.1:p.Val1046Phe
XM_011535122.1:c.2317G>T	XP_011533424.1:p.Val773Phe
XR_941601.1:n.3868G>T
XR_941602.1:n.3868G>T
XR_941603.1:n.3868G>T
XR_941604.1:n.3868G>T
NM_001330578.1:c.3415G>T	NP_001317507.1:p.Val1139Phe
NM_001330579.1:c.3397G>T	NP_001317508.1:p.Val1133Phe
XM_005266424.4:c.3553G>T	XP_005266481.1:p.Val1185Phe
XM_005266430.4:c.3649G>T	XP_005266487.1:p.Val1217Phe
XM_005266431.4:c.3613G>T	XP_005266488.1:p.Val1205Phe
XM_006719837.3:c.3553G>T	XP_006719900.1:p.Val1185Phe
XM_011535117.3:c.3553G>T	XP_011533419.1:p.Val1185Phe
XM_017020627.1:c.3553G>T	XP_016876116.1:p.Val1185Phe
NM_000053.4:c.3649G>T MANE Select	NP_000044.2:p.Val1217Phe
NM_001005918.3:c.3028G>T	NP_001005918.1:p.Val1010Phe
NM_001330579.2:c.3397G>T	NP_001317508.1:p.Val1133Phe
NM_001243182.2:c.3316G>T	NP_001230111.1:p.Val1106Phe
NM_001330578.2:c.3415G>T	NP_001317507.1:p.Val1139Phe