Canonical Allele Identifier: CA190505

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780790A>C , CM000664.2:g.214780790A>C	GRCh38
NC_000002.11:g.215645514A>C , CM000664.1:g.215645514A>C	GRCh37
NC_000002.10:g.215353759A>C	NCBI36
NG_012047.2:g.33915T>G
NG_012047.3:g.33922T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1084T>G MANE Select	NP_000456.2:p.Cys362Gly
ENST00000260947.9:c.1084T>G MANE Select	ENSP00000260947.4:p.Cys362Gly
NM_000465.3:c.1084T>G	NP_000456.2:p.Cys362Gly
NM_001282543.1:c.1027T>G	NP_001269472.1:p.Cys343Gly
NM_001282543.2:c.1027T>G	NP_001269472.1:p.Cys343Gly
NM_001282545.1:c.215+16271T>G	NP_001269474.1:n.215+16271T>G
NM_001282545.2:c.215+16271T>G	NP_001269474.1:n.215+16271T>G
NM_001282548.1:c.159-28235T>G	NP_001269477.1:n.159-28235T>G
NM_001282548.2:c.159-28235T>G	NP_001269477.1:n.159-28235T>G
NM_001282549.1:c.364+11507T>G	NP_001269478.1:n.364+11507T>G
NM_001282549.2:c.364+11507T>G	NP_001269478.1:n.364+11507T>G
NR_104212.1:n.1077T>G
NR_104212.2:n.1049T>G
NR_104215.1:n.1020T>G
NR_104215.2:n.992T>G
NR_104216.1:n.507-11478T>G
NR_104216.2:n.479-11478T>G
ENST00000260947.8:c.1084T>G	ENSP00000260947.4:p.Cys362Gly
ENST00000421162.1:c.215+16271T>G	ENSP00000392245.1:n.215+16271T>G
ENST00000421162.2:c.215+16271T>G	ENSP00000392245.2:n.215+16271T>G
ENST00000455743.5:c.*704T>G	ENSP00000412186.1:n.*704T>G
ENST00000613192.1:c.73+28622T>G	ENSP00000483275.1:n.73+28622T>G
ENST00000613192.2:c.158+28622T>G	ENSP00000483275.2:n.158+28622T>G
ENST00000613374.4:c.159-28235T>G	ENSP00000484464.1:n.159-28235T>G
ENST00000613374.5:c.159-28235T>G	ENSP00000484464.1:n.159-28235T>G
ENST00000613706.4:c.215+16271T>G	ENSP00000484976.1:n.215+16271T>G
ENST00000613706.5:c.906+178T>G	ENSP00000484976.2:n.906+178T>G
ENST00000617164.4:c.1027T>G	ENSP00000480470.1:p.Cys343Gly
ENST00000617164.5:c.1027T>G	ENSP00000480470.1:p.Cys343Gly
ENST00000619009.4:c.364+11507T>G	ENSP00000482293.1:n.364+11507T>G
ENST00000619009.5:c.364+11507T>G	ENSP00000482293.1:n.364+11507T>G
ENST00000620057.4:c.365-11478T>G	ENSP00000481988.1:n.365-11478T>G
ENST00000650978.1:c.926T>G
XM_011511567.1:c.1030T>G	XP_011509869.1:p.Cys344Gly
XM_011511568.1:c.1084T>G	XP_011509870.1:p.Cys362Gly
XM_017004613.1:c.1183T>G	XP_016860102.1:p.Cys395Gly
XM_017004614.1:c.1183T>G	XP_016860103.1:p.Cys395Gly
XR_002959322.1:n.1274T>G