Canonical Allele Identifier: CA190846

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780726A>T , CM000664.2:g.214780726A>T	GRCh38
NC_000002.11:g.215645450A>T , CM000664.1:g.215645450A>T	GRCh37
NC_000002.10:g.215353695A>T	NCBI36
NG_012047.2:g.33979T>A
NG_012047.3:g.33986T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1148T>A MANE Select	ENSP00000260947.4:p.Met383Lys
ENST00000421162.2:c.215+16335T>A	ENSP00000392245.2:n.215+16335T>A
ENST00000613192.2:c.158+28686T>A	ENSP00000483275.2:n.158+28686T>A
ENST00000613374.5:c.159-28171T>A	ENSP00000484464.1:n.159-28171T>A
ENST00000613706.5:c.906+242T>A	ENSP00000484976.2:n.906+242T>A
ENST00000617164.5:c.1091T>A	ENSP00000480470.1:p.Met364Lys
ENST00000619009.5:c.364+11571T>A	ENSP00000482293.1:n.364+11571T>A
ENST00000650978.1:c.990T>A
ENST00000260947.8:c.1148T>A	ENSP00000260947.4:p.Met383Lys
ENST00000421162.1:c.215+16335T>A	ENSP00000392245.1:n.215+16335T>A
ENST00000455743.5:c.*768T>A	ENSP00000412186.1:n.*768T>A
ENST00000613192.1:c.73+28686T>A	ENSP00000483275.1:n.73+28686T>A
ENST00000613374.4:c.159-28171T>A	ENSP00000484464.1:n.159-28171T>A
ENST00000613706.4:c.215+16335T>A	ENSP00000484976.1:n.215+16335T>A
ENST00000617164.4:c.1091T>A	ENSP00000480470.1:p.Met364Lys
ENST00000619009.4:c.364+11571T>A	ENSP00000482293.1:n.364+11571T>A
ENST00000620057.4:c.365-11414T>A	ENSP00000481988.1:n.365-11414T>A
NM_000465.3:c.1148T>A	NP_000456.2:p.Met383Lys
NM_001282543.1:c.1091T>A	NP_001269472.1:p.Met364Lys
NM_001282545.1:c.215+16335T>A	NP_001269474.1:n.215+16335T>A
NM_001282548.1:c.159-28171T>A	NP_001269477.1:n.159-28171T>A
NM_001282549.1:c.364+11571T>A	NP_001269478.1:n.364+11571T>A
NR_104212.1:n.1141T>A
NR_104215.1:n.1084T>A
NR_104216.1:n.507-11414T>A
XM_011511567.1:c.1094T>A	XP_011509869.1:p.Met365Lys
XM_011511568.1:c.1148T>A	XP_011509870.1:p.Met383Lys
XM_017004613.1:c.1247T>A	XP_016860102.1:p.Met416Lys
XM_017004614.1:c.1247T>A	XP_016860103.1:p.Met416Lys
XR_002959322.1:n.1338T>A
NM_000465.4:c.1148T>A MANE Select	NP_000456.2:p.Met383Lys
NM_001282543.2:c.1091T>A	NP_001269472.1:p.Met364Lys
NM_001282545.2:c.215+16335T>A	NP_001269474.1:n.215+16335T>A
NM_001282548.2:c.159-28171T>A	NP_001269477.1:n.159-28171T>A
NM_001282549.2:c.364+11571T>A	NP_001269478.1:n.364+11571T>A
NR_104212.2:n.1113T>A
NR_104215.2:n.1056T>A
NR_104216.2:n.479-11414T>A