Canonical Allele Identifier: CA350454518

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752451G>C , CM000664.2:g.214752451G>C	GRCh38
NC_000002.11:g.215617175G>C , CM000664.1:g.215617175G>C	GRCh37
NC_000002.10:g.215325420G>C	NCBI36
NG_012047.2:g.62254C>G
NG_012047.3:g.62261C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1673C>G MANE Select	NP_000456.2:p.Ser558Ter
ENST00000260947.9:c.1673C>G MANE Select	ENSP00000260947.4:p.Ser558Ter
NM_000465.3:c.1673C>G	NP_000456.2:p.Ser558Ter
NM_001282543.1:c.1616C>G	NP_001269472.1:p.Ser539Ter
NM_001282543.2:c.1616C>G	NP_001269472.1:p.Ser539Ter
NM_001282545.1:c.320C>G	NP_001269474.1:p.Ser107Ter
NM_001282545.2:c.320C>G	NP_001269474.1:p.Ser107Ter
NM_001282548.1:c.263C>G	NP_001269477.1:p.Ser88Ter
NM_001282548.2:c.263C>G	NP_001269477.1:p.Ser88Ter
NM_001282549.1:c.365-21943C>G	NP_001269478.1:n.365-21943C>G
NM_001282549.2:c.365-21943C>G	NP_001269478.1:n.365-21943C>G
NR_104212.1:n.1666C>G
NR_104212.2:n.1638C>G
NR_104215.1:n.1609C>G
NR_104215.2:n.1581C>G
NR_104216.1:n.865C>G
NR_104216.2:n.837C>G
ENST00000260947.8:c.1673C>G	ENSP00000260947.4:p.Ser558Ter
ENST00000421162.1:c.320C>G	ENSP00000392245.1:p.Ser107Ter
ENST00000421162.2:c.320C>G	ENSP00000392245.2:p.Ser107Ter
ENST00000455743.5:c.*1293C>G	ENSP00000412186.1:n.*1293C>G
ENST00000465841.1:n.28C>G
ENST00000613192.1:c.74-21943C>G	ENSP00000483275.1:n.74-21943C>G
ENST00000613192.2:c.159-21943C>G	ENSP00000483275.2:n.159-21943C>G
ENST00000613374.4:c.263C>G	ENSP00000484464.1:p.Ser88Ter
ENST00000613374.5:c.263C>G	ENSP00000484464.1:p.Ser88Ter
ENST00000613706.4:c.320C>G	ENSP00000484976.1:p.Ser107Ter
ENST00000613706.5:c.1265C>G	ENSP00000484976.2:p.Ser422Ter
ENST00000617164.4:c.1616C>G	ENSP00000480470.1:p.Ser539Ter
ENST00000617164.5:c.1616C>G	ENSP00000480470.1:p.Ser539Ter
ENST00000619009.4:c.365-21943C>G	ENSP00000482293.1:n.365-21943C>G
ENST00000619009.5:c.365-21943C>G	ENSP00000482293.1:n.365-21943C>G
ENST00000620057.4:c.*339C>G	ENSP00000481988.1:n.*339C>G
ENST00000650978.1:c.3048C>G
XM_011511567.1:c.1619C>G	XP_011509869.1:p.Ser540Ter
XM_011511568.1:c.1673C>G	XP_011509870.1:p.Ser558Ter
XM_017004613.1:c.1772C>G	XP_016860102.1:p.Ser591Ter
XM_017004614.1:c.1772C>G	XP_016860103.1:p.Ser591Ter
XR_002959322.1:n.1863C>G