Canonical Allele Identifier: CA350453739

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780670A>G , CM000664.2:g.214780670A>G	GRCh38
NC_000002.11:g.215645394A>G , CM000664.1:g.215645394A>G	GRCh37
NC_000002.10:g.215353639A>G	NCBI36
NG_012047.2:g.34035T>C
NG_012047.3:g.34042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1204T>C MANE Select	ENSP00000260947.4:p.Ser402Pro
ENST00000421162.2:c.215+16391T>C	ENSP00000392245.2:n.215+16391T>C
ENST00000613192.2:c.158+28742T>C	ENSP00000483275.2:n.158+28742T>C
ENST00000613374.5:c.159-28115T>C	ENSP00000484464.1:n.159-28115T>C
ENST00000613706.5:c.906+298T>C	ENSP00000484976.2:n.906+298T>C
ENST00000617164.5:c.1147T>C	ENSP00000480470.1:p.Ser383Pro
ENST00000619009.5:c.364+11627T>C	ENSP00000482293.1:n.364+11627T>C
ENST00000650978.1:c.1046T>C
ENST00000260947.8:c.1204T>C	ENSP00000260947.4:p.Ser402Pro
ENST00000421162.1:c.215+16391T>C	ENSP00000392245.1:n.215+16391T>C
ENST00000455743.5:c.*824T>C	ENSP00000412186.1:n.*824T>C
ENST00000613192.1:c.73+28742T>C	ENSP00000483275.1:n.73+28742T>C
ENST00000613374.4:c.159-28115T>C	ENSP00000484464.1:n.159-28115T>C
ENST00000613706.4:c.215+16391T>C	ENSP00000484976.1:n.215+16391T>C
ENST00000617164.4:c.1147T>C	ENSP00000480470.1:p.Ser383Pro
ENST00000619009.4:c.364+11627T>C	ENSP00000482293.1:n.364+11627T>C
ENST00000620057.4:c.365-11358T>C	ENSP00000481988.1:n.365-11358T>C
NM_000465.3:c.1204T>C	NP_000456.2:p.Ser402Pro
NM_001282543.1:c.1147T>C	NP_001269472.1:p.Ser383Pro
NM_001282545.1:c.215+16391T>C	NP_001269474.1:n.215+16391T>C
NM_001282548.1:c.159-28115T>C	NP_001269477.1:n.159-28115T>C
NM_001282549.1:c.364+11627T>C	NP_001269478.1:n.364+11627T>C
NR_104212.1:n.1197T>C
NR_104215.1:n.1140T>C
NR_104216.1:n.507-11358T>C
XM_011511567.1:c.1150T>C	XP_011509869.1:p.Ser384Pro
XM_011511568.1:c.1204T>C	XP_011509870.1:p.Ser402Pro
XM_017004613.1:c.1303T>C	XP_016860102.1:p.Ser435Pro
XM_017004614.1:c.1303T>C	XP_016860103.1:p.Ser435Pro
XR_002959322.1:n.1394T>C
NM_000465.4:c.1204T>C MANE Select	NP_000456.2:p.Ser402Pro
NM_001282543.2:c.1147T>C	NP_001269472.1:p.Ser383Pro
NM_001282545.2:c.215+16391T>C	NP_001269474.1:n.215+16391T>C
NM_001282548.2:c.159-28115T>C	NP_001269477.1:n.159-28115T>C
NM_001282549.2:c.364+11627T>C	NP_001269478.1:n.364+11627T>C
NR_104212.2:n.1169T>C
NR_104215.2:n.1112T>C
NR_104216.2:n.479-11358T>C