Canonical Allele Identifier: CA348824

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780967C>G , CM000664.2:g.214780967C>G	GRCh38
NC_000002.11:g.215645691C>G , CM000664.1:g.215645691C>G	GRCh37
NC_000002.10:g.215353936C>G	NCBI36
NG_012047.2:g.33738G>C
NG_012047.3:g.33745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.907G>C MANE Select	ENSP00000260947.4:p.Val303Leu
ENST00000421162.2:c.215+16094G>C	ENSP00000392245.2:n.215+16094G>C
ENST00000613192.2:c.158+28445G>C	ENSP00000483275.2:n.158+28445G>C
ENST00000613374.5:c.159-28412G>C	ENSP00000484464.1:n.159-28412G>C
ENST00000613706.5:c.906+1G>C	ENSP00000484976.2:n.906+1G>C
ENST00000617164.5:c.850G>C	ENSP00000480470.1:p.Val284Leu
ENST00000619009.5:c.364+11330G>C	ENSP00000482293.1:n.364+11330G>C
ENST00000650978.1:c.749G>C
ENST00000260947.8:c.907G>C	ENSP00000260947.4:p.Val303Leu
ENST00000421162.1:c.215+16094G>C	ENSP00000392245.1:n.215+16094G>C
ENST00000455743.5:c.*527G>C	ENSP00000412186.1:n.*527G>C
ENST00000471787.1:n.802G>C
ENST00000613192.1:c.73+28445G>C	ENSP00000483275.1:n.73+28445G>C
ENST00000613374.4:c.159-28412G>C	ENSP00000484464.1:n.159-28412G>C
ENST00000613706.4:c.215+16094G>C	ENSP00000484976.1:n.215+16094G>C
ENST00000617164.4:c.850G>C	ENSP00000480470.1:p.Val284Leu
ENST00000619009.4:c.364+11330G>C	ENSP00000482293.1:n.364+11330G>C
ENST00000620057.4:c.364+11330G>C	ENSP00000481988.1:n.364+11330G>C
NM_000465.3:c.907G>C	NP_000456.2:p.Val303Leu
NM_001282543.1:c.850G>C	NP_001269472.1:p.Val284Leu
NM_001282545.1:c.215+16094G>C	NP_001269474.1:n.215+16094G>C
NM_001282548.1:c.159-28412G>C	NP_001269477.1:n.159-28412G>C
NM_001282549.1:c.364+11330G>C	NP_001269478.1:n.364+11330G>C
NR_104212.1:n.900G>C
NR_104215.1:n.843G>C
NR_104216.1:n.506+11330G>C
XM_011511567.1:c.853G>C	XP_011509869.1:p.Val285Leu
XM_011511568.1:c.907G>C	XP_011509870.1:p.Val303Leu
XM_017004613.1:c.1006G>C	XP_016860102.1:p.Val336Leu
XM_017004614.1:c.1006G>C	XP_016860103.1:p.Val336Leu
XR_002959322.1:n.1097G>C
NM_000465.4:c.907G>C MANE Select	NP_000456.2:p.Val303Leu
NM_001282543.2:c.850G>C	NP_001269472.1:p.Val284Leu
NM_001282545.2:c.215+16094G>C	NP_001269474.1:n.215+16094G>C
NM_001282548.2:c.159-28412G>C	NP_001269477.1:n.159-28412G>C
NM_001282549.2:c.364+11330G>C	NP_001269478.1:n.364+11330G>C
NR_104212.2:n.872G>C
NR_104215.2:n.815G>C
NR_104216.2:n.478+11330G>C