Canonical Allele Identifier: CA350454613

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752466G>C , CM000664.2:g.214752466G>C	GRCh38
NC_000002.11:g.215617190G>C , CM000664.1:g.215617190G>C	GRCh37
NC_000002.10:g.215325435G>C	NCBI36
NG_012047.2:g.62239C>G
NG_012047.3:g.62246C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1658C>G MANE Select	NP_000456.2:p.Ser553Ter
ENST00000260947.9:c.1658C>G MANE Select	ENSP00000260947.4:p.Ser553Ter
NM_000465.3:c.1658C>G	NP_000456.2:p.Ser553Ter
NM_001282543.1:c.1601C>G	NP_001269472.1:p.Ser534Ter
NM_001282543.2:c.1601C>G	NP_001269472.1:p.Ser534Ter
NM_001282545.1:c.305C>G	NP_001269474.1:p.Ser102Ter
NM_001282545.2:c.305C>G	NP_001269474.1:p.Ser102Ter
NM_001282548.1:c.248C>G	NP_001269477.1:p.Ser83Ter
NM_001282548.2:c.248C>G	NP_001269477.1:p.Ser83Ter
NM_001282549.1:c.365-21958C>G	NP_001269478.1:n.365-21958C>G
NM_001282549.2:c.365-21958C>G	NP_001269478.1:n.365-21958C>G
NR_104212.1:n.1651C>G
NR_104212.2:n.1623C>G
NR_104215.1:n.1594C>G
NR_104215.2:n.1566C>G
NR_104216.1:n.850C>G
NR_104216.2:n.822C>G
ENST00000260947.8:c.1658C>G	ENSP00000260947.4:p.Ser553Ter
ENST00000421162.1:c.305C>G	ENSP00000392245.1:p.Ser102Ter
ENST00000421162.2:c.305C>G	ENSP00000392245.2:p.Ser102Ter
ENST00000455743.5:c.*1278C>G	ENSP00000412186.1:n.*1278C>G
ENST00000465841.1:n.13C>G
ENST00000613192.1:c.74-21958C>G	ENSP00000483275.1:n.74-21958C>G
ENST00000613192.2:c.159-21958C>G	ENSP00000483275.2:n.159-21958C>G
ENST00000613374.4:c.248C>G	ENSP00000484464.1:p.Ser83Ter
ENST00000613374.5:c.248C>G	ENSP00000484464.1:p.Ser83Ter
ENST00000613706.4:c.305C>G	ENSP00000484976.1:p.Ser102Ter
ENST00000613706.5:c.1250C>G	ENSP00000484976.2:p.Ser417Ter
ENST00000617164.4:c.1601C>G	ENSP00000480470.1:p.Ser534Ter
ENST00000617164.5:c.1601C>G	ENSP00000480470.1:p.Ser534Ter
ENST00000619009.4:c.365-21958C>G	ENSP00000482293.1:n.365-21958C>G
ENST00000619009.5:c.365-21958C>G	ENSP00000482293.1:n.365-21958C>G
ENST00000620057.4:c.*324C>G	ENSP00000481988.1:n.*324C>G
ENST00000650978.1:c.3033C>G
XM_011511567.1:c.1604C>G	XP_011509869.1:p.Ser535Ter
XM_011511568.1:c.1658C>G	XP_011509870.1:p.Ser553Ter
XM_017004613.1:c.1757C>G	XP_016860102.1:p.Ser586Ter
XM_017004614.1:c.1757C>G	XP_016860103.1:p.Ser586Ter
XR_002959322.1:n.1848C>G