Canonical Allele Identifier: CA350453610

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780637C>T , CM000664.2:g.214780637C>T	GRCh38
NC_000002.11:g.215645361C>T , CM000664.1:g.215645361C>T	GRCh37
NC_000002.10:g.215353606C>T	NCBI36
NG_012047.2:g.34068G>A
NG_012047.3:g.34075G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1237G>A MANE Select	NP_000456.2:p.Ala413Thr
ENST00000260947.9:c.1237G>A MANE Select	ENSP00000260947.4:p.Ala413Thr
NM_000465.3:c.1237G>A	NP_000456.2:p.Ala413Thr
NM_001282543.1:c.1180G>A	NP_001269472.1:p.Ala394Thr
NM_001282543.2:c.1180G>A	NP_001269472.1:p.Ala394Thr
NM_001282545.1:c.215+16424G>A	NP_001269474.1:n.215+16424G>A
NM_001282545.2:c.215+16424G>A	NP_001269474.1:n.215+16424G>A
NM_001282548.1:c.159-28082G>A	NP_001269477.1:n.159-28082G>A
NM_001282548.2:c.159-28082G>A	NP_001269477.1:n.159-28082G>A
NM_001282549.1:c.364+11660G>A	NP_001269478.1:n.364+11660G>A
NM_001282549.2:c.364+11660G>A	NP_001269478.1:n.364+11660G>A
NR_104212.1:n.1230G>A
NR_104212.2:n.1202G>A
NR_104215.1:n.1173G>A
NR_104215.2:n.1145G>A
NR_104216.1:n.507-11325G>A
NR_104216.2:n.479-11325G>A
ENST00000260947.8:c.1237G>A	ENSP00000260947.4:p.Ala413Thr
ENST00000421162.1:c.215+16424G>A	ENSP00000392245.1:n.215+16424G>A
ENST00000421162.2:c.215+16424G>A	ENSP00000392245.2:n.215+16424G>A
ENST00000455743.5:c.*857G>A	ENSP00000412186.1:n.*857G>A
ENST00000613192.1:c.73+28775G>A	ENSP00000483275.1:n.73+28775G>A
ENST00000613192.2:c.158+28775G>A	ENSP00000483275.2:n.158+28775G>A
ENST00000613374.4:c.159-28082G>A	ENSP00000484464.1:n.159-28082G>A
ENST00000613374.5:c.159-28082G>A	ENSP00000484464.1:n.159-28082G>A
ENST00000613706.4:c.215+16424G>A	ENSP00000484976.1:n.215+16424G>A
ENST00000613706.5:c.906+331G>A	ENSP00000484976.2:n.906+331G>A
ENST00000617164.4:c.1180G>A	ENSP00000480470.1:p.Ala394Thr
ENST00000617164.5:c.1180G>A	ENSP00000480470.1:p.Ala394Thr
ENST00000619009.4:c.364+11660G>A	ENSP00000482293.1:n.364+11660G>A
ENST00000619009.5:c.364+11660G>A	ENSP00000482293.1:n.364+11660G>A
ENST00000620057.4:c.365-11325G>A	ENSP00000481988.1:n.365-11325G>A
ENST00000650978.1:c.1079G>A
XM_011511567.1:c.1183G>A	XP_011509869.1:p.Ala395Thr
XM_011511568.1:c.1237G>A	XP_011509870.1:p.Ala413Thr
XM_017004613.1:c.1336G>A	XP_016860102.1:p.Ala446Thr
XM_017004614.1:c.1336G>A	XP_016860103.1:p.Ala446Thr
XR_002959322.1:n.1427G>A