Canonical Allele Identifier: CA350448335

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767545G>A , CM000664.2:g.214767545G>A	GRCh38
NC_000002.11:g.215632269G>A , CM000664.1:g.215632269G>A	GRCh37
NC_000002.10:g.215340514G>A	NCBI36
NG_012047.2:g.47160C>T
NG_012047.3:g.47167C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1505C>T MANE Select	NP_000456.2:p.Ala502Val
ENST00000260947.9:c.1505C>T MANE Select	ENSP00000260947.4:p.Ala502Val
NM_000465.3:c.1505C>T	NP_000456.2:p.Ala502Val
NM_001282543.1:c.1448C>T	NP_001269472.1:p.Ala483Val
NM_001282543.2:c.1448C>T	NP_001269472.1:p.Ala483Val
NM_001282545.1:c.216-14990C>T	NP_001269474.1:n.216-14990C>T
NM_001282545.2:c.216-14990C>T	NP_001269474.1:n.216-14990C>T
NM_001282548.1:c.159-14990C>T	NP_001269477.1:n.159-14990C>T
NM_001282548.2:c.159-14990C>T	NP_001269477.1:n.159-14990C>T
NM_001282549.1:c.364+24752C>T	NP_001269478.1:n.364+24752C>T
NM_001282549.2:c.364+24752C>T	NP_001269478.1:n.364+24752C>T
NR_104212.1:n.1498C>T
NR_104212.2:n.1470C>T
NR_104215.1:n.1441C>T
NR_104215.2:n.1413C>T
NR_104216.1:n.697C>T
NR_104216.2:n.669C>T
ENST00000260947.8:c.1505C>T	ENSP00000260947.4:p.Ala502Val
ENST00000421162.1:c.216-14990C>T	ENSP00000392245.1:n.216-14990C>T
ENST00000421162.2:c.216-14990C>T	ENSP00000392245.2:n.216-14990C>T
ENST00000455743.5:c.*1125C>T	ENSP00000412186.1:n.*1125C>T
ENST00000613192.1:c.74-37037C>T	ENSP00000483275.1:n.74-37037C>T
ENST00000613192.2:c.159-37037C>T	ENSP00000483275.2:n.159-37037C>T
ENST00000613374.4:c.159-14990C>T	ENSP00000484464.1:n.159-14990C>T
ENST00000613374.5:c.159-14990C>T	ENSP00000484464.1:n.159-14990C>T
ENST00000613706.4:c.216-14990C>T	ENSP00000484976.1:n.216-14990C>T
ENST00000613706.5:c.1097C>T	ENSP00000484976.2:p.Ala366Val
ENST00000617164.4:c.1448C>T	ENSP00000480470.1:p.Ala483Val
ENST00000617164.5:c.1448C>T	ENSP00000480470.1:p.Ala483Val
ENST00000619009.4:c.364+24752C>T	ENSP00000482293.1:n.364+24752C>T
ENST00000619009.5:c.364+24752C>T	ENSP00000482293.1:n.364+24752C>T
ENST00000620057.4:c.*171C>T	ENSP00000481988.1:n.*171C>T
ENST00000650978.1:c.2880C>T
XM_011511567.1:c.1451C>T	XP_011509869.1:p.Ala484Val
XM_011511568.1:c.1505C>T	XP_011509870.1:p.Ala502Val
XM_017004613.1:c.1604C>T	XP_016860102.1:p.Ala535Val
XM_017004614.1:c.1604C>T	XP_016860103.1:p.Ala535Val
XR_002959322.1:n.1695C>T