Canonical Allele Identifier: CA350450361
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2105987026

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728833G>A , CM000664.2:g.214728833G>A GRCh38
NC_000002.11:g.215593557G>A , CM000664.1:g.215593557G>A GRCh37
NC_000002.10:g.215301802G>A NCBI36
NG_012047.2:g.85872C>T
NG_012047.3:g.85879C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2177C>T MANE Select ENSP00000260947.4:p.Pro726Leu
ENST00000421162.2:c.824C>T ENSP00000392245.2:p.Pro275Leu
ENST00000613192.2:c.*240C>T ENSP00000483275.2:n.*240C>T
ENST00000613374.5:c.767C>T ENSP00000484464.1:p.Pro256Leu
ENST00000613706.5:c.1769C>T ENSP00000484976.2:p.Pro590Leu
ENST00000617164.5:c.2120C>T ENSP00000480470.1:p.Pro707Leu
ENST00000619009.5:c.638C>T ENSP00000482293.1:p.Pro213Leu
ENST00000650978.1:c.3552C>T
ENST00000260947.8:c.2177C>T ENSP00000260947.4:p.Pro726Leu
ENST00000432456.5:c.320C>T
ENST00000455743.5:c.*1797C>T ENSP00000412186.1:n.*1797C>T
ENST00000471590.5:n.512C>T
ENST00000613192.1:c.347C>T ENSP00000483275.1:p.Pro116Leu
ENST00000613374.4:c.767C>T ENSP00000484464.1:p.Pro256Leu
ENST00000613706.4:c.824C>T ENSP00000484976.1:p.Pro275Leu
ENST00000617164.4:c.2120C>T ENSP00000480470.1:p.Pro707Leu
ENST00000619009.4:c.638C>T ENSP00000482293.1:p.Pro213Leu
ENST00000620057.4:c.*843C>T ENSP00000481988.1:n.*843C>T
NM_000465.3:c.2177C>T NP_000456.2:p.Pro726Leu
NM_001282543.1:c.2120C>T NP_001269472.1:p.Pro707Leu
NM_001282545.1:c.824C>T NP_001269474.1:p.Pro275Leu
NM_001282548.1:c.767C>T NP_001269477.1:p.Pro256Leu
NM_001282549.1:c.638C>T NP_001269478.1:p.Pro213Leu
NR_104212.1:n.2170C>T
NR_104215.1:n.2113C>T
NR_104216.1:n.1369C>T
XM_011511567.1:c.2123C>T XP_011509869.1:p.Pro708Leu
XM_017004613.1:c.2276C>T XP_016860102.1:p.Pro759Leu
XR_002959322.1:n.2543C>T
NM_000465.4:c.2177C>T MANE Select NP_000456.2:p.Pro726Leu
NM_001282543.2:c.2120C>T NP_001269472.1:p.Pro707Leu
NM_001282545.2:c.824C>T NP_001269474.1:p.Pro275Leu
NM_001282548.2:c.767C>T NP_001269477.1:p.Pro256Leu
NM_001282549.2:c.638C>T NP_001269478.1:p.Pro213Leu
NR_104212.2:n.2142C>T
NR_104215.2:n.2085C>T
NR_104216.2:n.1341C>T