Canonical Allele Identifier: CA388026757

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515346T>C (hg19) ; chr13:g.51941210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941210T>C , CM000675.2:g.51941210T>C	GRCh38
NC_000013.10:g.52515346T>C , CM000675.1:g.52515346T>C	GRCh37
NC_000013.9:g.51413347T>C	NCBI36
NG_008806.1:g.75285A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1077A>G	ENSP00000489512.2:n.*1077A>G
ENST00000673864.2:c.*2171A>G	ENSP00000501045.2:n.*2171A>G
ENST00000674147.2:c.2806A>G	ENSP00000500964.2:p.Thr936Ala
ENST00000242839.10:c.3427A>G MANE Select	ENSP00000242839.5:p.Thr1143Ala
ENST00000344297.9:c.2806A>G	ENSP00000342559.5:p.Thr936Ala
ENST00000400366.6:c.3094A>G	ENSP00000383217.3:p.Thr1032Ala
ENST00000448424.7:c.3175A>G	ENSP00000416738.3:p.Thr1059Ala
ENST00000673772.1:c.3193A>G	ENSP00000501168.1:p.Thr1065Ala
ENST00000673867.1:n.3566A>G
ENST00000674126.1:n.3790A>G
ENST00000674147.1:c.2362A>G	ENSP00000500964.1:p.Thr788Ala
ENST00000242839.8:c.3427A>G	ENSP00000242839.4:p.Thr1143Ala
ENST00000344297.8:c.2806A>G	ENSP00000342559.5:p.Thr936Ala
ENST00000400366.5:c.3094A>G	ENSP00000383217.3:p.Thr1032Ala
ENST00000400370.8:c.2137A>G	ENSP00000383221.3:p.Thr713Ala
ENST00000418097.7:c.3232A>G	ENSP00000393343.2:p.Thr1078Ala
ENST00000448424.6:c.3193A>G	ENSP00000416738.2:p.Thr1065Ala
ENST00000634296.1:c.1205A>G
ENST00000634308.1:c.*528A>G	ENSP00000489234.1:n.*528A>G
ENST00000634620.1:n.4171A>G
ENST00000634810.1:n.2772A>G
ENST00000634844.1:c.3283A>G	ENSP00000489398.1:p.Thr1095Ala
NM_000053.3:c.3427A>G	NP_000044.2:p.Thr1143Ala
NM_001005918.2:c.2806A>G	NP_001005918.1:p.Thr936Ala
NM_001243182.1:c.3094A>G	NP_001230111.1:p.Thr1032Ala
XM_005266423.2:c.3331A>G	XP_005266480.1:p.Thr1111Ala
XM_005266424.3:c.3331A>G	XP_005266481.1:p.Thr1111Ala
XM_005266427.2:c.3193A>G	XP_005266484.1:p.Thr1065Ala
XM_005266428.1:c.3175A>G	XP_005266485.1:p.Thr1059Ala
XM_005266430.3:c.3427A>G	XP_005266487.1:p.Thr1143Ala
XM_005266431.2:c.3391A>G	XP_005266488.1:p.Thr1131Ala
XM_005266432.2:c.2941A>G	XP_005266489.1:p.Thr981Ala
XM_006719837.2:c.3331A>G	XP_006719900.1:p.Thr1111Ala
XM_006719838.1:c.1243A>G	XP_006719901.1:p.Thr415Ala
XM_006719839.1:c.1060A>G	XP_006719902.1:p.Thr354Ala
XM_011535117.1:c.3331A>G	XP_011533419.1:p.Thr1111Ala
XM_011535118.1:c.3292A>G	XP_011533420.1:p.Thr1098Ala
XM_011535119.1:c.3244A>G	XP_011533421.1:p.Thr1082Ala
XM_011535120.1:c.3013A>G	XP_011533422.1:p.Thr1005Ala
XM_011535121.1:c.2914A>G	XP_011533423.1:p.Thr972Ala
XM_011535122.1:c.2095A>G	XP_011533424.1:p.Thr699Ala
XR_941601.1:n.3646A>G
XR_941602.1:n.3646A>G
XR_941603.1:n.3646A>G
XR_941604.1:n.3646A>G
NM_001330578.1:c.3193A>G	NP_001317507.1:p.Thr1065Ala
NM_001330579.1:c.3175A>G	NP_001317508.1:p.Thr1059Ala
XM_005266424.4:c.3331A>G	XP_005266481.1:p.Thr1111Ala
XM_005266430.4:c.3427A>G	XP_005266487.1:p.Thr1143Ala
XM_005266431.4:c.3391A>G	XP_005266488.1:p.Thr1131Ala
XM_006719837.3:c.3331A>G	XP_006719900.1:p.Thr1111Ala
XM_011535117.3:c.3331A>G	XP_011533419.1:p.Thr1111Ala
XM_017020627.1:c.3331A>G	XP_016876116.1:p.Thr1111Ala
NM_000053.4:c.3427A>G MANE Select	NP_000044.2:p.Thr1143Ala
NM_001005918.3:c.2806A>G	NP_001005918.1:p.Thr936Ala
NM_001330579.2:c.3175A>G	NP_001317508.1:p.Thr1059Ala
NM_001243182.2:c.3094A>G	NP_001230111.1:p.Thr1032Ala
NM_001330578.2:c.3193A>G	NP_001317507.1:p.Thr1065Ala