Canonical Allele Identifier: CA350452166
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745109T>A , CM000664.2:g.214745109T>A GRCh38
NC_000002.11:g.215609833T>A , CM000664.1:g.215609833T>A GRCh37
NC_000002.10:g.215318078T>A NCBI36
NG_012047.2:g.69596A>T
NG_012047.3:g.69603A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1861A>T MANE Select ENSP00000260947.4:p.Met621Leu
ENST00000421162.2:c.508A>T ENSP00000392245.2:p.Met170Leu
ENST00000613192.2:c.159-14601A>T ENSP00000483275.2:n.159-14601A>T
ENST00000613374.5:c.451A>T ENSP00000484464.1:p.Met151Leu
ENST00000613706.5:c.1453A>T ENSP00000484976.2:p.Met485Leu
ENST00000617164.5:c.1804A>T ENSP00000480470.1:p.Met602Leu
ENST00000619009.5:c.365-14601A>T ENSP00000482293.1:n.365-14601A>T
ENST00000650978.1:c.3236A>T
ENST00000260947.8:c.1861A>T ENSP00000260947.4:p.Met621Leu
ENST00000421162.1:c.508A>T ENSP00000392245.1:p.Met170Leu
ENST00000455743.5:c.*1481A>T ENSP00000412186.1:n.*1481A>T
ENST00000613192.1:c.74-14601A>T ENSP00000483275.1:n.74-14601A>T
ENST00000613374.4:c.451A>T ENSP00000484464.1:p.Met151Leu
ENST00000613706.4:c.508A>T ENSP00000484976.1:p.Met170Leu
ENST00000617164.4:c.1804A>T ENSP00000480470.1:p.Met602Leu
ENST00000619009.4:c.365-14601A>T ENSP00000482293.1:n.365-14601A>T
ENST00000620057.4:c.*527A>T ENSP00000481988.1:n.*527A>T
NM_000465.3:c.1861A>T NP_000456.2:p.Met621Leu
NM_001282543.1:c.1804A>T NP_001269472.1:p.Met602Leu
NM_001282545.1:c.508A>T NP_001269474.1:p.Met170Leu
NM_001282548.1:c.451A>T NP_001269477.1:p.Met151Leu
NM_001282549.1:c.365-14601A>T NP_001269478.1:n.365-14601A>T
NR_104212.1:n.1854A>T
NR_104215.1:n.1797A>T
NR_104216.1:n.1053A>T
XM_011511567.1:c.1807A>T XP_011509869.1:p.Met603Leu
XM_011511568.1:c.1861A>T XP_011509870.1:p.Met621Leu
XM_017004613.1:c.1960A>T XP_016860102.1:p.Met654Leu
XM_017004614.1:c.1960A>T XP_016860103.1:p.Met654Leu
XR_002959322.1:n.2051A>T
NM_000465.4:c.1861A>T MANE Select NP_000456.2:p.Met621Leu
NM_001282543.2:c.1804A>T NP_001269472.1:p.Met602Leu
NM_001282545.2:c.508A>T NP_001269474.1:p.Met170Leu
NM_001282548.2:c.451A>T NP_001269477.1:p.Met151Leu
NM_001282549.2:c.365-14601A>T NP_001269478.1:n.365-14601A>T
NR_104212.2:n.1826A>T
NR_104215.2:n.1769A>T
NR_104216.2:n.1025A>T