Canonical Allele Identifier: CA388030373

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518375C>A (hg19) ; chr13:g.51944239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944239C>A , CM000675.2:g.51944239C>A	GRCh38
NC_000013.10:g.52518375C>A , CM000675.1:g.52518375C>A	GRCh37
NC_000013.9:g.51416376C>A	NCBI36
NG_008806.1:g.72256G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1685G>T	ENSP00000489512.2:n.*894-1685G>T
ENST00000673864.2:c.*1857G>T	ENSP00000501045.2:n.*1857G>T
ENST00000674147.2:c.2492G>T	ENSP00000500964.2:p.Arg831Met
ENST00000242839.10:c.3113G>T MANE Select	ENSP00000242839.5:p.Arg1038Met
ENST00000344297.9:c.2492G>T	ENSP00000342559.5:p.Arg831Met
ENST00000400366.6:c.2780G>T	ENSP00000383217.3:p.Arg927Met
ENST00000448424.7:c.2861G>T	ENSP00000416738.3:p.Arg954Met
ENST00000673772.1:c.2879G>T	ENSP00000501168.1:p.Arg960Met
ENST00000673867.1:n.3252G>T
ENST00000674126.1:n.3476G>T
ENST00000674147.1:c.2048G>T	ENSP00000500964.1:p.Arg683Met
ENST00000242839.8:c.3113G>T	ENSP00000242839.4:p.Arg1038Met
ENST00000344297.8:c.2492G>T	ENSP00000342559.5:p.Arg831Met
ENST00000400366.5:c.2780G>T	ENSP00000383217.3:p.Arg927Met
ENST00000400370.8:c.1823G>T	ENSP00000383221.3:p.Arg608Met
ENST00000418097.7:c.2918G>T	ENSP00000393343.2:p.Arg973Met
ENST00000448424.6:c.2879G>T	ENSP00000416738.2:p.Arg960Met
ENST00000466629.1:n.333G>T
ENST00000634296.1:c.1022-1685G>T
ENST00000634308.1:c.*214G>T	ENSP00000489234.1:n.*214G>T
ENST00000634620.1:n.3857G>T
ENST00000634810.1:n.2458G>T
ENST00000634844.1:c.2969G>T	ENSP00000489398.1:p.Arg990Met
ENST00000635406.1:n.459G>T
NM_000053.3:c.3113G>T	NP_000044.2:p.Arg1038Met
NM_001005918.2:c.2492G>T	NP_001005918.1:p.Arg831Met
NM_001243182.1:c.2780G>T	NP_001230111.1:p.Arg927Met
XM_005266423.2:c.3017G>T	XP_005266480.1:p.Arg1006Met
XM_005266424.3:c.3017G>T	XP_005266481.1:p.Arg1006Met
XM_005266427.2:c.2879G>T	XP_005266484.1:p.Arg960Met
XM_005266428.1:c.2861G>T	XP_005266485.1:p.Arg954Met
XM_005266430.3:c.3113G>T	XP_005266487.1:p.Arg1038Met
XM_005266431.2:c.3077G>T	XP_005266488.1:p.Arg1026Met
XM_005266432.2:c.2627G>T	XP_005266489.1:p.Arg876Met
XM_006719837.2:c.3017G>T	XP_006719900.1:p.Arg1006Met
XM_006719838.1:c.929G>T	XP_006719901.1:p.Arg310Met
XM_006719839.1:c.877-1685G>T	XP_006719902.1:n.877-1685G>T
XM_011535117.1:c.3017G>T	XP_011533419.1:p.Arg1006Met
XM_011535118.1:c.2978G>T	XP_011533420.1:p.Arg993Met
XM_011535119.1:c.3061-1685G>T	XP_011533421.1:n.3061-1685G>T
XM_011535120.1:c.2699G>T	XP_011533422.1:p.Arg900Met
XM_011535121.1:c.2731-1685G>T	XP_011533423.1:n.2731-1685G>T
XM_011535122.1:c.1781G>T	XP_011533424.1:p.Arg594Met
XR_941601.1:n.3332G>T
XR_941602.1:n.3332G>T
XR_941603.1:n.3332G>T
XR_941604.1:n.3332G>T
NM_001330578.1:c.2879G>T	NP_001317507.1:p.Arg960Met
NM_001330579.1:c.2861G>T	NP_001317508.1:p.Arg954Met
XM_005266424.4:c.3017G>T	XP_005266481.1:p.Arg1006Met
XM_005266430.4:c.3113G>T	XP_005266487.1:p.Arg1038Met
XM_005266431.4:c.3077G>T	XP_005266488.1:p.Arg1026Met
XM_006719837.3:c.3017G>T	XP_006719900.1:p.Arg1006Met
XM_011535117.3:c.3017G>T	XP_011533419.1:p.Arg1006Met
XM_017020627.1:c.3017G>T	XP_016876116.1:p.Arg1006Met
NM_000053.4:c.3113G>T MANE Select	NP_000044.2:p.Arg1038Met
NM_001005918.3:c.2492G>T	NP_001005918.1:p.Arg831Met
NM_001330579.2:c.2861G>T	NP_001317508.1:p.Arg954Met
NM_001243182.2:c.2780G>T	NP_001230111.1:p.Arg927Met
NM_001330578.2:c.2879G>T	NP_001317507.1:p.Arg960Met