Canonical Allele Identifier: CA298472

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745724G>T , CM000664.2:g.214745724G>T	GRCh38
NC_000002.11:g.215610448G>T , CM000664.1:g.215610448G>T	GRCh37
NC_000002.10:g.215318693G>T	NCBI36
NG_012047.2:g.68981C>A
NG_012047.3:g.68988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1808C>A MANE Select	ENSP00000260947.4:p.Thr603Lys
ENST00000421162.2:c.455C>A	ENSP00000392245.2:p.Thr152Lys
ENST00000613192.2:c.159-15216C>A	ENSP00000483275.2:n.159-15216C>A
ENST00000613374.5:c.398C>A	ENSP00000484464.1:p.Thr133Lys
ENST00000613706.5:c.1400C>A	ENSP00000484976.2:p.Thr467Lys
ENST00000617164.5:c.1751C>A	ENSP00000480470.1:p.Thr584Lys
ENST00000619009.5:c.365-15216C>A	ENSP00000482293.1:n.365-15216C>A
ENST00000650978.1:c.3183C>A
ENST00000260947.8:c.1808C>A	ENSP00000260947.4:p.Thr603Lys
ENST00000421162.1:c.455C>A	ENSP00000392245.1:p.Thr152Lys
ENST00000455743.5:c.*1428C>A	ENSP00000412186.1:n.*1428C>A
ENST00000465841.1:n.163C>A
ENST00000613192.1:c.74-15216C>A	ENSP00000483275.1:n.74-15216C>A
ENST00000613374.4:c.398C>A	ENSP00000484464.1:p.Thr133Lys
ENST00000613706.4:c.455C>A	ENSP00000484976.1:p.Thr152Lys
ENST00000617164.4:c.1751C>A	ENSP00000480470.1:p.Thr584Lys
ENST00000619009.4:c.365-15216C>A	ENSP00000482293.1:n.365-15216C>A
ENST00000620057.4:c.*474C>A	ENSP00000481988.1:n.*474C>A
NM_000465.3:c.1808C>A	NP_000456.2:p.Thr603Lys
NM_001282543.1:c.1751C>A	NP_001269472.1:p.Thr584Lys
NM_001282545.1:c.455C>A	NP_001269474.1:p.Thr152Lys
NM_001282548.1:c.398C>A	NP_001269477.1:p.Thr133Lys
NM_001282549.1:c.365-15216C>A	NP_001269478.1:n.365-15216C>A
NR_104212.1:n.1801C>A
NR_104215.1:n.1744C>A
NR_104216.1:n.1000C>A
XM_011511567.1:c.1754C>A	XP_011509869.1:p.Thr585Lys
XM_011511568.1:c.1808C>A	XP_011509870.1:p.Thr603Lys
XM_017004613.1:c.1907C>A	XP_016860102.1:p.Thr636Lys
XM_017004614.1:c.1907C>A	XP_016860103.1:p.Thr636Lys
XR_002959322.1:n.1998C>A
NM_000465.4:c.1808C>A MANE Select	NP_000456.2:p.Thr603Lys
NM_001282543.2:c.1751C>A	NP_001269472.1:p.Thr584Lys
NM_001282545.2:c.455C>A	NP_001269474.1:p.Thr152Lys
NM_001282548.2:c.398C>A	NP_001269477.1:p.Thr133Lys
NM_001282549.2:c.365-15216C>A	NP_001269478.1:n.365-15216C>A
NR_104212.2:n.1773C>A
NR_104215.2:n.1716C>A
NR_104216.2:n.972C>A