Canonical Allele Identifier: CA287518
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127720
dbSNP Id: rs587780021

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745842G>A , CM000664.2:g.214745842G>A GRCh38
NC_000002.11:g.215610566G>A , CM000664.1:g.215610566G>A GRCh37
NC_000002.10:g.215318811G>A NCBI36
NG_012047.2:g.68863C>T
NG_012047.3:g.68870C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1690C>T MANE Select ENSP00000260947.4:p.Gln564Ter
ENST00000421162.2:c.337C>T ENSP00000392245.2:p.Gln113Ter
ENST00000613192.2:c.159-15334C>T ENSP00000483275.2:p.=
ENST00000613374.5:c.280C>T ENSP00000484464.1:p.Gln94Ter
ENST00000613706.5:c.1282C>T ENSP00000484976.2:p.Gln428Ter
ENST00000617164.5:c.1633C>T ENSP00000480470.1:p.Gln545Ter
ENST00000619009.5:c.365-15334C>T ENSP00000482293.1:p.=
ENST00000650978.1:n.3065C>T
ENST00000260947.8:c.1690C>T ENSP00000260947.4:p.Gln564Ter
ENST00000421162.1:c.337C>T ENSP00000392245.1:p.Gln113Ter
ENST00000455743.5:c.*1310C>T ENSP00000412186.1:p.=
ENST00000465841.1:n.45C>T
ENST00000613192.1:c.74-15334C>T ENSP00000483275.1:p.=
ENST00000613374.4:c.280C>T ENSP00000484464.1:p.Gln94Ter
ENST00000613706.4:c.337C>T ENSP00000484976.1:p.Gln113Ter
ENST00000617164.4:c.1633C>T ENSP00000480470.1:p.Gln545Ter
ENST00000619009.4:c.365-15334C>T ENSP00000482293.1:p.=
ENST00000620057.4:c.*356C>T ENSP00000481988.1:p.=
NM_000465.3:c.1690C>T NP_000456.2:p.Gln564Ter
NM_001282543.1:c.1633C>T NP_001269472.1:p.Gln545Ter
NM_001282545.1:c.337C>T NP_001269474.1:p.Gln113Ter
NM_001282548.1:c.280C>T NP_001269477.1:p.Gln94Ter
NM_001282549.1:c.365-15334C>T NP_001269478.1:p.=
NR_104212.1:n.1683C>T
NR_104215.1:n.1626C>T
NR_104216.1:n.882C>T
XM_011511567.1:c.1636C>T XP_011509869.1:p.Gln546Ter
XM_011511568.1:c.1690C>T XP_011509870.1:p.Gln564Ter
XM_017004613.1:c.1789C>T XP_016860102.1:p.Gln597Ter
XM_017004614.1:c.1789C>T XP_016860103.1:p.Gln597Ter
XR_002959322.1:n.1880C>T
NM_000465.4:c.1690C>T MANE Select NP_000456.2:p.Gln564Ter
NM_001282543.2:c.1633C>T NP_001269472.1:p.Gln545Ter
NM_001282545.2:c.337C>T NP_001269474.1:p.Gln113Ter
NM_001282548.2:c.280C>T NP_001269477.1:p.Gln94Ter
NM_001282549.2:c.365-15334C>T NP_001269478.1:p.=
NR_104212.2:n.1655C>T
NR_104215.2:n.1598C>T
NR_104216.2:n.854C>T