Canonical Allele Identifier: CA350448454

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767574A>C , CM000664.2:g.214767574A>C	GRCh38
NC_000002.11:g.215632298A>C , CM000664.1:g.215632298A>C	GRCh37
NC_000002.10:g.215340543A>C	NCBI36
NG_012047.2:g.47131T>G
NG_012047.3:g.47138T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1476T>G MANE Select	NP_000456.2:p.Tyr492Ter
ENST00000260947.9:c.1476T>G MANE Select	ENSP00000260947.4:p.Tyr492Ter
NM_000465.3:c.1476T>G	NP_000456.2:p.Tyr492Ter
NM_001282543.1:c.1419T>G	NP_001269472.1:p.Tyr473Ter
NM_001282543.2:c.1419T>G	NP_001269472.1:p.Tyr473Ter
NM_001282545.1:c.216-15019T>G	NP_001269474.1:n.216-15019T>G
NM_001282545.2:c.216-15019T>G	NP_001269474.1:n.216-15019T>G
NM_001282548.1:c.159-15019T>G	NP_001269477.1:n.159-15019T>G
NM_001282548.2:c.159-15019T>G	NP_001269477.1:n.159-15019T>G
NM_001282549.1:c.364+24723T>G	NP_001269478.1:n.364+24723T>G
NM_001282549.2:c.364+24723T>G	NP_001269478.1:n.364+24723T>G
NR_104212.1:n.1469T>G
NR_104212.2:n.1441T>G
NR_104215.1:n.1412T>G
NR_104215.2:n.1384T>G
NR_104216.1:n.668T>G
NR_104216.2:n.640T>G
ENST00000260947.8:c.1476T>G	ENSP00000260947.4:p.Tyr492Ter
ENST00000421162.1:c.216-15019T>G	ENSP00000392245.1:n.216-15019T>G
ENST00000421162.2:c.216-15019T>G	ENSP00000392245.2:n.216-15019T>G
ENST00000455743.5:c.*1096T>G	ENSP00000412186.1:n.*1096T>G
ENST00000613192.1:c.74-37066T>G	ENSP00000483275.1:n.74-37066T>G
ENST00000613192.2:c.159-37066T>G	ENSP00000483275.2:n.159-37066T>G
ENST00000613374.4:c.159-15019T>G	ENSP00000484464.1:n.159-15019T>G
ENST00000613374.5:c.159-15019T>G	ENSP00000484464.1:n.159-15019T>G
ENST00000613706.4:c.216-15019T>G	ENSP00000484976.1:n.216-15019T>G
ENST00000613706.5:c.1068T>G	ENSP00000484976.2:p.Tyr356Ter
ENST00000617164.4:c.1419T>G	ENSP00000480470.1:p.Tyr473Ter
ENST00000617164.5:c.1419T>G	ENSP00000480470.1:p.Tyr473Ter
ENST00000619009.4:c.364+24723T>G	ENSP00000482293.1:n.364+24723T>G
ENST00000619009.5:c.364+24723T>G	ENSP00000482293.1:n.364+24723T>G
ENST00000620057.4:c.*142T>G	ENSP00000481988.1:n.*142T>G
ENST00000650978.1:c.2851T>G
XM_011511567.1:c.1422T>G	XP_011509869.1:p.Tyr474Ter
XM_011511568.1:c.1476T>G	XP_011509870.1:p.Tyr492Ter
XM_017004613.1:c.1575T>G	XP_016860102.1:p.Tyr525Ter
XM_017004614.1:c.1575T>G	XP_016860103.1:p.Tyr525Ter
XR_002959322.1:n.1666T>G