Canonical Allele Identifier: CA388027643

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942385C>G , CM000675.2:g.51942385C>G	GRCh38
NC_000013.10:g.52516521C>G , CM000675.1:g.52516521C>G	GRCh37
NC_000013.9:g.51414522C>G	NCBI36
NG_008806.1:g.74110G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3412+1G>C MANE Select	NP_000044.2:n.3412+1G>C
ENST00000242839.10:c.3412+1G>C MANE Select	ENSP00000242839.5:n.3412+1G>C
NM_000053.3:c.3412+1G>C	NP_000044.2:n.3412+1G>C
NM_001005918.2:c.2791+1G>C	NP_001005918.1:n.2791+1G>C
NM_001005918.3:c.2791+1G>C	NP_001005918.1:n.2791+1G>C
NM_001243182.1:c.3079+1G>C	NP_001230111.1:n.3079+1G>C
NM_001243182.2:c.3079+1G>C	NP_001230111.1:n.3079+1G>C
NM_001330578.1:c.3178+1G>C	NP_001317507.1:n.3178+1G>C
NM_001330578.2:c.3178+1G>C	NP_001317507.1:n.3178+1G>C
NM_001330579.1:c.3160+1G>C	NP_001317508.1:n.3160+1G>C
NM_001330579.2:c.3160+1G>C	NP_001317508.1:n.3160+1G>C
ENST00000242839.8:c.3412+1G>C	ENSP00000242839.4:n.3412+1G>C
ENST00000344297.8:c.2791+1G>C	ENSP00000342559.5:n.2791+1G>C
ENST00000344297.9:c.2791+1G>C	ENSP00000342559.5:n.2791+1G>C
ENST00000400366.5:c.3079+1G>C	ENSP00000383217.3:n.3079+1G>C
ENST00000400366.6:c.3079+1G>C	ENSP00000383217.3:n.3079+1G>C
ENST00000400370.8:c.2122+1G>C	ENSP00000383221.3:n.2122+1G>C
ENST00000418097.7:c.3217+1G>C	ENSP00000393343.2:n.3217+1G>C
ENST00000448424.6:c.3178+1G>C	ENSP00000416738.2:n.3178+1G>C
ENST00000448424.7:c.3160+1G>C	ENSP00000416738.3:n.3160+1G>C
ENST00000634296.1:c.1190+1G>C
ENST00000634296.2:c.*1062+1G>C	ENSP00000489512.2:n.*1062+1G>C
ENST00000634308.1:c.*513+1G>C	ENSP00000489234.1:n.*513+1G>C
ENST00000634620.1:n.4156+1G>C
ENST00000634810.1:n.2757+1G>C
ENST00000634844.1:c.3268+1G>C	ENSP00000489398.1:n.3268+1G>C
ENST00000673772.1:c.3178+1G>C	ENSP00000501168.1:n.3178+1G>C
ENST00000673864.2:c.*2156+1G>C	ENSP00000501045.2:n.*2156+1G>C
ENST00000673867.1:n.3551+1G>C
ENST00000674126.1:n.3775+1G>C
ENST00000674147.1:c.2347+1G>C	ENSP00000500964.1:n.2347+1G>C
ENST00000674147.2:c.2791+1G>C	ENSP00000500964.2:n.2791+1G>C
XM_005266423.2:c.3316+1G>C	XP_005266480.1:n.3316+1G>C
XM_005266424.3:c.3316+1G>C	XP_005266481.1:n.3316+1G>C
XM_005266424.4:c.3316+1G>C	XP_005266481.1:n.3316+1G>C
XM_005266427.2:c.3178+1G>C	XP_005266484.1:n.3178+1G>C
XM_005266428.1:c.3160+1G>C	XP_005266485.1:n.3160+1G>C
XM_005266430.3:c.3412+1G>C	XP_005266487.1:n.3412+1G>C
XM_005266430.4:c.3412+1G>C	XP_005266487.1:n.3412+1G>C
XM_005266431.2:c.3376+1G>C	XP_005266488.1:n.3376+1G>C
XM_005266431.4:c.3376+1G>C	XP_005266488.1:n.3376+1G>C
XM_005266432.2:c.2926+1G>C	XP_005266489.1:n.2926+1G>C
XM_006719837.2:c.3316+1G>C	XP_006719900.1:n.3316+1G>C
XM_006719837.3:c.3316+1G>C	XP_006719900.1:n.3316+1G>C
XM_006719838.1:c.1228+1G>C	XP_006719901.1:n.1228+1G>C
XM_006719839.1:c.1045+1G>C	XP_006719902.1:n.1045+1G>C
XM_011535117.1:c.3316+1G>C	XP_011533419.1:n.3316+1G>C
XM_011535117.3:c.3316+1G>C	XP_011533419.1:n.3316+1G>C
XM_011535118.1:c.3277+1G>C	XP_011533420.1:n.3277+1G>C
XM_011535119.1:c.3229+1G>C	XP_011533421.1:n.3229+1G>C
XM_011535120.1:c.2998+1G>C	XP_011533422.1:n.2998+1G>C
XM_011535121.1:c.2899+1G>C	XP_011533423.1:n.2899+1G>C
XM_011535122.1:c.2080+1G>C	XP_011533424.1:n.2080+1G>C
XM_017020627.1:c.3316+1G>C	XP_016876116.1:n.3316+1G>C
XR_941601.1:n.3631+1G>C
XR_941602.1:n.3631+1G>C
XR_941603.1:n.3631+1G>C
XR_941604.1:n.3631+1G>C