Canonical Allele Identifier: CA250552

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752454C>G , CM000664.2:g.214752454C>G	GRCh38
NC_000002.11:g.215617178C>G , CM000664.1:g.215617178C>G	GRCh37
NC_000002.10:g.215325423C>G	NCBI36
NG_012047.2:g.62251G>C
NG_012047.3:g.62258G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1670G>C MANE Select	ENSP00000260947.4:p.Cys557Ser
ENST00000421162.2:c.317G>C	ENSP00000392245.2:p.Cys106Ser
ENST00000613192.2:c.159-21946G>C	ENSP00000483275.2:n.159-21946G>C
ENST00000613374.5:c.260G>C	ENSP00000484464.1:p.Cys87Ser
ENST00000613706.5:c.1262G>C	ENSP00000484976.2:p.Cys421Ser
ENST00000617164.5:c.1613G>C	ENSP00000480470.1:p.Cys538Ser
ENST00000619009.5:c.365-21946G>C	ENSP00000482293.1:n.365-21946G>C
ENST00000650978.1:c.3045G>C
ENST00000260947.8:c.1670G>C	ENSP00000260947.4:p.Cys557Ser
ENST00000421162.1:c.317G>C	ENSP00000392245.1:p.Cys106Ser
ENST00000455743.5:c.*1290G>C	ENSP00000412186.1:n.*1290G>C
ENST00000465841.1:n.25G>C
ENST00000613192.1:c.74-21946G>C	ENSP00000483275.1:n.74-21946G>C
ENST00000613374.4:c.260G>C	ENSP00000484464.1:p.Cys87Ser
ENST00000613706.4:c.317G>C	ENSP00000484976.1:p.Cys106Ser
ENST00000617164.4:c.1613G>C	ENSP00000480470.1:p.Cys538Ser
ENST00000619009.4:c.365-21946G>C	ENSP00000482293.1:n.365-21946G>C
ENST00000620057.4:c.*336G>C	ENSP00000481988.1:n.*336G>C
NM_000465.3:c.1670G>C	NP_000456.2:p.Cys557Ser
NM_001282543.1:c.1613G>C	NP_001269472.1:p.Cys538Ser
NM_001282545.1:c.317G>C	NP_001269474.1:p.Cys106Ser
NM_001282548.1:c.260G>C	NP_001269477.1:p.Cys87Ser
NM_001282549.1:c.365-21946G>C	NP_001269478.1:n.365-21946G>C
NR_104212.1:n.1663G>C
NR_104215.1:n.1606G>C
NR_104216.1:n.862G>C
XM_011511567.1:c.1616G>C	XP_011509869.1:p.Cys539Ser
XM_011511568.1:c.1670G>C	XP_011509870.1:p.Cys557Ser
XM_017004613.1:c.1769G>C	XP_016860102.1:p.Cys590Ser
XM_017004614.1:c.1769G>C	XP_016860103.1:p.Cys590Ser
XR_002959322.1:n.1860G>C
NM_000465.4:c.1670G>C MANE Select	NP_000456.2:p.Cys557Ser
NM_001282543.2:c.1613G>C	NP_001269472.1:p.Cys538Ser
NM_001282545.2:c.317G>C	NP_001269474.1:p.Cys106Ser
NM_001282548.2:c.260G>C	NP_001269477.1:p.Cys87Ser
NM_001282549.2:c.365-21946G>C	NP_001269478.1:n.365-21946G>C
NR_104212.2:n.1635G>C
NR_104215.2:n.1578G>C
NR_104216.2:n.834G>C