Canonical Allele Identifier: CA2697551888

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2733024
• ClinVar RCV Id: RCV003504478

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942571A>C , CM000675.2:g.51942571A>C	GRCh38
NC_000013.10:g.52516707A>C , CM000675.1:g.52516707A>C	GRCh37
NC_000013.9:g.51414708A>C	NCBI36
NG_008806.1:g.73924T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-17T>G	ENSP00000489512.2:n.*894-17T>G
ENST00000673864.2:c.*1988-17T>G	ENSP00000501045.2:n.*1988-17T>G
ENST00000674147.2:c.2623-17T>G	ENSP00000500964.2:n.2623-17T>G
ENST00000242839.10:c.3244-17T>G MANE Select	ENSP00000242839.5:n.3244-17T>G
ENST00000344297.9:c.2623-17T>G	ENSP00000342559.5:n.2623-17T>G
ENST00000400366.6:c.2911-17T>G	ENSP00000383217.3:n.2911-17T>G
ENST00000448424.7:c.2992-17T>G	ENSP00000416738.3:n.2992-17T>G
ENST00000673772.1:c.3010-17T>G	ENSP00000501168.1:n.3010-17T>G
ENST00000673867.1:n.3383-17T>G
ENST00000674126.1:n.3607-17T>G
ENST00000674147.1:c.2179-17T>G	ENSP00000500964.1:n.2179-17T>G
ENST00000242839.8:c.3244-17T>G	ENSP00000242839.4:n.3244-17T>G
ENST00000344297.8:c.2623-17T>G	ENSP00000342559.5:n.2623-17T>G
ENST00000400366.5:c.2911-17T>G	ENSP00000383217.3:n.2911-17T>G
ENST00000400370.8:c.1954-17T>G	ENSP00000383221.3:n.1954-17T>G
ENST00000418097.7:c.3049-17T>G	ENSP00000393343.2:n.3049-17T>G
ENST00000448424.6:c.3010-17T>G	ENSP00000416738.2:n.3010-17T>G
ENST00000634296.1:c.1022-17T>G
ENST00000634308.1:c.*345-17T>G	ENSP00000489234.1:n.*345-17T>G
ENST00000634620.1:n.3988-17T>G
ENST00000634810.1:n.2589-17T>G
ENST00000634844.1:c.3100-17T>G	ENSP00000489398.1:n.3100-17T>G
NM_000053.3:c.3244-17T>G	NP_000044.2:n.3244-17T>G
NM_001005918.2:c.2623-17T>G	NP_001005918.1:n.2623-17T>G
NM_001243182.1:c.2911-17T>G	NP_001230111.1:n.2911-17T>G
XM_005266423.2:c.3148-17T>G	XP_005266480.1:n.3148-17T>G
XM_005266424.3:c.3148-17T>G	XP_005266481.1:n.3148-17T>G
XM_005266427.2:c.3010-17T>G	XP_005266484.1:n.3010-17T>G
XM_005266428.1:c.2992-17T>G	XP_005266485.1:n.2992-17T>G
XM_005266430.3:c.3244-17T>G	XP_005266487.1:n.3244-17T>G
XM_005266431.2:c.3208-17T>G	XP_005266488.1:n.3208-17T>G
XM_005266432.2:c.2758-17T>G	XP_005266489.1:n.2758-17T>G
XM_006719837.2:c.3148-17T>G	XP_006719900.1:n.3148-17T>G
XM_006719838.1:c.1060-17T>G	XP_006719901.1:n.1060-17T>G
XM_006719839.1:c.877-17T>G	XP_006719902.1:n.877-17T>G
XM_011535117.1:c.3148-17T>G	XP_011533419.1:n.3148-17T>G
XM_011535118.1:c.3109-17T>G	XP_011533420.1:n.3109-17T>G
XM_011535119.1:c.3061-17T>G	XP_011533421.1:n.3061-17T>G
XM_011535120.1:c.2830-17T>G	XP_011533422.1:n.2830-17T>G
XM_011535121.1:c.2731-17T>G	XP_011533423.1:n.2731-17T>G
XM_011535122.1:c.1912-17T>G	XP_011533424.1:n.1912-17T>G
XR_941601.1:n.3463-17T>G
XR_941602.1:n.3463-17T>G
XR_941603.1:n.3463-17T>G
XR_941604.1:n.3463-17T>G
NM_001330578.1:c.3010-17T>G	NP_001317507.1:n.3010-17T>G
NM_001330579.1:c.2992-17T>G	NP_001317508.1:n.2992-17T>G
XM_005266424.4:c.3148-17T>G	XP_005266481.1:n.3148-17T>G
XM_005266430.4:c.3244-17T>G	XP_005266487.1:n.3244-17T>G
XM_005266431.4:c.3208-17T>G	XP_005266488.1:n.3208-17T>G
XM_006719837.3:c.3148-17T>G	XP_006719900.1:n.3148-17T>G
XM_011535117.3:c.3148-17T>G	XP_011533419.1:n.3148-17T>G
XM_017020627.1:c.3148-17T>G	XP_016876116.1:n.3148-17T>G
NM_000053.4:c.3244-17T>G MANE Select	NP_000044.2:n.3244-17T>G
NM_001005918.3:c.2623-17T>G	NP_001005918.1:n.2623-17T>G
NM_001330579.2:c.2992-17T>G	NP_001317508.1:n.2992-17T>G
NM_001243182.2:c.2911-17T>G	NP_001230111.1:n.2911-17T>G
NM_001330578.2:c.3010-17T>G	NP_001317507.1:n.3010-17T>G