Canonical Allele Identifier: CA388024761

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513319A>C (hg19) ; chr13:g.51939183A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939183A>C , CM000675.2:g.51939183A>C	GRCh38
NC_000013.10:g.52513319A>C , CM000675.1:g.52513319A>C	GRCh37
NC_000013.9:g.51411320A>C	NCBI36
NG_008806.1:g.77312T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1217T>G	ENSP00000489512.2:n.*1217T>G
ENST00000673864.2:c.*2311T>G	ENSP00000501045.2:n.*2311T>G
ENST00000674147.2:c.2946T>G	ENSP00000500964.2:p.Cys982Trp
ENST00000242839.10:c.3567T>G MANE Select	ENSP00000242839.5:p.Cys1189Trp
ENST00000344297.9:c.2946T>G	ENSP00000342559.5:p.Cys982Trp
ENST00000400366.6:c.3234T>G	ENSP00000383217.3:p.Cys1078Trp
ENST00000448424.7:c.3315T>G	ENSP00000416738.3:p.Cys1105Trp
ENST00000673696.1:n.808T>G
ENST00000673772.1:c.3333T>G	ENSP00000501168.1:p.Cys1111Trp
ENST00000673867.1:n.3706T>G
ENST00000673923.1:n.433T>G
ENST00000674147.1:c.2502T>G	ENSP00000500964.1:p.Cys834Trp
ENST00000242839.8:c.3567T>G	ENSP00000242839.4:p.Cys1189Trp
ENST00000344297.8:c.2946T>G	ENSP00000342559.5:p.Cys982Trp
ENST00000400366.5:c.3234T>G	ENSP00000383217.3:p.Cys1078Trp
ENST00000400370.8:c.2277T>G	ENSP00000383221.3:p.Cys759Trp
ENST00000418097.7:c.3372T>G	ENSP00000393343.2:p.Cys1124Trp
ENST00000448424.6:c.3333T>G	ENSP00000416738.2:p.Cys1111Trp
ENST00000634296.1:c.1345T>G
ENST00000634308.1:c.*668T>G	ENSP00000489234.1:n.*668T>G
ENST00000634620.1:n.4311T>G
ENST00000634810.1:n.2912T>G
ENST00000634844.1:c.3423T>G	ENSP00000489398.1:p.Cys1141Trp
NM_000053.3:c.3567T>G	NP_000044.2:p.Cys1189Trp
NM_001005918.2:c.2946T>G	NP_001005918.1:p.Cys982Trp
NM_001243182.1:c.3234T>G	NP_001230111.1:p.Cys1078Trp
XM_005266423.2:c.3471T>G	XP_005266480.1:p.Cys1157Trp
XM_005266424.3:c.3471T>G	XP_005266481.1:p.Cys1157Trp
XM_005266427.2:c.3333T>G	XP_005266484.1:p.Cys1111Trp
XM_005266428.1:c.3315T>G	XP_005266485.1:p.Cys1105Trp
XM_005266430.3:c.3567T>G	XP_005266487.1:p.Cys1189Trp
XM_005266431.2:c.3531T>G	XP_005266488.1:p.Cys1177Trp
XM_005266432.2:c.3081T>G	XP_005266489.1:p.Cys1027Trp
XM_006719837.2:c.3471T>G	XP_006719900.1:p.Cys1157Trp
XM_006719838.1:c.1383T>G	XP_006719901.1:p.Cys461Trp
XM_006719839.1:c.1200T>G	XP_006719902.1:p.Cys400Trp
XM_011535117.1:c.3471T>G	XP_011533419.1:p.Cys1157Trp
XM_011535118.1:c.3432T>G	XP_011533420.1:p.Cys1144Trp
XM_011535119.1:c.3384T>G	XP_011533421.1:p.Cys1128Trp
XM_011535120.1:c.3153T>G	XP_011533422.1:p.Cys1051Trp
XM_011535121.1:c.3054T>G	XP_011533423.1:p.Cys1018Trp
XM_011535122.1:c.2235T>G	XP_011533424.1:p.Cys745Trp
XR_941601.1:n.3786T>G
XR_941602.1:n.3786T>G
XR_941603.1:n.3786T>G
XR_941604.1:n.3786T>G
NM_001330578.1:c.3333T>G	NP_001317507.1:p.Cys1111Trp
NM_001330579.1:c.3315T>G	NP_001317508.1:p.Cys1105Trp
XM_005266424.4:c.3471T>G	XP_005266481.1:p.Cys1157Trp
XM_005266430.4:c.3567T>G	XP_005266487.1:p.Cys1189Trp
XM_005266431.4:c.3531T>G	XP_005266488.1:p.Cys1177Trp
XM_006719837.3:c.3471T>G	XP_006719900.1:p.Cys1157Trp
XM_011535117.3:c.3471T>G	XP_011533419.1:p.Cys1157Trp
XM_017020627.1:c.3471T>G	XP_016876116.1:p.Cys1157Trp
NM_000053.4:c.3567T>G MANE Select	NP_000044.2:p.Cys1189Trp
NM_001005918.3:c.2946T>G	NP_001005918.1:p.Cys982Trp
NM_001330579.2:c.3315T>G	NP_001317508.1:p.Cys1105Trp
NM_001243182.2:c.3234T>G	NP_001230111.1:p.Cys1078Trp
NM_001330578.2:c.3333T>G	NP_001317507.1:p.Cys1111Trp