Canonical Allele Identifier: CA350449776
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728706C>A , CM000664.2:g.214728706C>A GRCh38
NC_000002.11:g.215593430C>A , CM000664.1:g.215593430C>A GRCh37
NC_000002.10:g.215301675C>A NCBI36
NG_012047.2:g.85999G>T
NG_012047.3:g.86006G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2304G>T MANE Select ENSP00000260947.4:p.Met768Ile
ENST00000421162.2:c.951G>T ENSP00000392245.2:p.Met317Ile
ENST00000613192.2:c.*367G>T ENSP00000483275.2:n.*367G>T
ENST00000613374.5:c.894G>T ENSP00000484464.1:p.Met298Ile
ENST00000613706.5:c.1896G>T ENSP00000484976.2:p.Met632Ile
ENST00000617164.5:c.2247G>T ENSP00000480470.1:p.Met749Ile
ENST00000619009.5:c.765G>T ENSP00000482293.1:p.Met255Ile
ENST00000650978.1:c.3679G>T
ENST00000260947.8:c.2304G>T ENSP00000260947.4:p.Met768Ile
ENST00000432456.5:c.447G>T
ENST00000455743.5:c.*1924G>T ENSP00000412186.1:n.*1924G>T
ENST00000471590.5:n.639G>T
ENST00000613192.1:c.474G>T ENSP00000483275.1:p.Met158Ile
ENST00000613374.4:c.894G>T ENSP00000484464.1:p.Met298Ile
ENST00000613706.4:c.951G>T ENSP00000484976.1:p.Met317Ile
ENST00000617164.4:c.2247G>T ENSP00000480470.1:p.Met749Ile
ENST00000619009.4:c.765G>T ENSP00000482293.1:p.Met255Ile
ENST00000620057.4:c.*970G>T ENSP00000481988.1:n.*970G>T
NM_000465.3:c.2304G>T NP_000456.2:p.Met768Ile
NM_001282543.1:c.2247G>T NP_001269472.1:p.Met749Ile
NM_001282545.1:c.951G>T NP_001269474.1:p.Met317Ile
NM_001282548.1:c.894G>T NP_001269477.1:p.Met298Ile
NM_001282549.1:c.765G>T NP_001269478.1:p.Met255Ile
NR_104212.1:n.2297G>T
NR_104215.1:n.2240G>T
NR_104216.1:n.1496G>T
XM_011511567.1:c.2250G>T XP_011509869.1:p.Met750Ile
XM_017004613.1:c.2403G>T XP_016860102.1:p.Met801Ile
XR_002959322.1:n.2670G>T
NM_000465.4:c.2304G>T MANE Select NP_000456.2:p.Met768Ile
NM_001282543.2:c.2247G>T NP_001269472.1:p.Met749Ile
NM_001282545.2:c.951G>T NP_001269474.1:p.Met317Ile
NM_001282548.2:c.894G>T NP_001269477.1:p.Met298Ile
NM_001282549.2:c.765G>T NP_001269478.1:p.Met255Ile
NR_104212.2:n.2269G>T
NR_104215.2:n.2212G>T
NR_104216.2:n.1468G>T