Canonical Allele Identifier: CA2090286

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769306T>C , CM000664.2:g.214769306T>C	GRCh38
NC_000002.11:g.215634030T>C , CM000664.1:g.215634030T>C	GRCh37
NC_000002.10:g.215342275T>C	NCBI36
NG_012047.2:g.45399A>G
NG_012047.3:g.45406A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1321A>G MANE Select	NP_000456.2:p.Ile441Val
ENST00000260947.9:c.1321A>G MANE Select	ENSP00000260947.4:p.Ile441Val
NM_000465.3:c.1321A>G	NP_000456.2:p.Ile441Val
NM_001282543.1:c.1264A>G	NP_001269472.1:p.Ile422Val
NM_001282543.2:c.1264A>G	NP_001269472.1:p.Ile422Val
NM_001282545.1:c.216-16751A>G	NP_001269474.1:n.216-16751A>G
NM_001282545.2:c.216-16751A>G	NP_001269474.1:n.216-16751A>G
NM_001282548.1:c.159-16751A>G	NP_001269477.1:n.159-16751A>G
NM_001282548.2:c.159-16751A>G	NP_001269477.1:n.159-16751A>G
NM_001282549.1:c.364+22991A>G	NP_001269478.1:n.364+22991A>G
NM_001282549.2:c.364+22991A>G	NP_001269478.1:n.364+22991A>G
NR_104212.1:n.1314A>G
NR_104212.2:n.1286A>G
NR_104215.1:n.1257A>G
NR_104215.2:n.1229A>G
NR_104216.1:n.513A>G
NR_104216.2:n.485A>G
ENST00000260947.8:c.1321A>G	ENSP00000260947.4:p.Ile441Val
ENST00000421162.1:c.216-16751A>G	ENSP00000392245.1:n.216-16751A>G
ENST00000421162.2:c.216-16751A>G	ENSP00000392245.2:n.216-16751A>G
ENST00000455743.5:c.*941A>G	ENSP00000412186.1:n.*941A>G
ENST00000613192.1:c.74-38798A>G	ENSP00000483275.1:n.74-38798A>G
ENST00000613192.2:c.159-38798A>G	ENSP00000483275.2:n.159-38798A>G
ENST00000613374.4:c.159-16751A>G	ENSP00000484464.1:n.159-16751A>G
ENST00000613374.5:c.159-16751A>G	ENSP00000484464.1:n.159-16751A>G
ENST00000613706.4:c.216-16751A>G	ENSP00000484976.1:n.216-16751A>G
ENST00000613706.5:c.913A>G	ENSP00000484976.2:p.Ile305Val
ENST00000617164.4:c.1264A>G	ENSP00000480470.1:p.Ile422Val
ENST00000617164.5:c.1264A>G	ENSP00000480470.1:p.Ile422Val
ENST00000619009.4:c.364+22991A>G	ENSP00000482293.1:n.364+22991A>G
ENST00000619009.5:c.364+22991A>G	ENSP00000482293.1:n.364+22991A>G
ENST00000620057.4:c.371A>G	ENSP00000481988.1:p.His124Arg
ENST00000650978.1:c.2696A>G
XM_011511567.1:c.1267A>G	XP_011509869.1:p.Ile423Val
XM_011511568.1:c.1321A>G	XP_011509870.1:p.Ile441Val
XM_017004613.1:c.1420A>G	XP_016860102.1:p.Ile474Val
XM_017004614.1:c.1420A>G	XP_016860103.1:p.Ile474Val
XR_002959322.1:n.1511A>G