Canonical Allele Identifier: CA10577761
Community Standard Title: NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728786A>T , CM000664.2:g.214728786A>T GRCh38
NC_000002.11:g.215593510A>T , CM000664.1:g.215593510A>T GRCh37
NC_000002.10:g.215301755A>T NCBI36
NG_012047.2:g.85919T>A
NG_012047.3:g.85926T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2224T>A MANE Select NP_000456.2:p.Leu742Met
ENST00000260947.9:c.2224T>A MANE Select ENSP00000260947.4:p.Leu742Met
NM_000465.3:c.2224T>A NP_000456.2:p.Leu742Met
NM_001282543.1:c.2167T>A NP_001269472.1:p.Leu723Met
NM_001282543.2:c.2167T>A NP_001269472.1:p.Leu723Met
NM_001282545.1:c.871T>A NP_001269474.1:p.Leu291Met
NM_001282545.2:c.871T>A NP_001269474.1:p.Leu291Met
NM_001282548.1:c.814T>A NP_001269477.1:p.Leu272Met
NM_001282548.2:c.814T>A NP_001269477.1:p.Leu272Met
NM_001282549.1:c.685T>A NP_001269478.1:p.Leu229Met
NM_001282549.2:c.685T>A NP_001269478.1:p.Leu229Met
NR_104212.1:n.2217T>A
NR_104212.2:n.2189T>A
NR_104215.1:n.2160T>A
NR_104215.2:n.2132T>A
NR_104216.1:n.1416T>A
NR_104216.2:n.1388T>A
ENST00000260947.8:c.2224T>A ENSP00000260947.4:p.Leu742Met
ENST00000421162.2:c.871T>A ENSP00000392245.2:p.Leu291Met
ENST00000432456.5:c.367T>A
ENST00000455743.5:c.*1844T>A ENSP00000412186.1:n.*1844T>A
ENST00000471590.5:n.559T>A
ENST00000613192.1:c.394T>A ENSP00000483275.1:p.Leu132Met
ENST00000613192.2:c.*287T>A ENSP00000483275.2:n.*287T>A
ENST00000613374.4:c.814T>A ENSP00000484464.1:p.Leu272Met
ENST00000613374.5:c.814T>A ENSP00000484464.1:p.Leu272Met
ENST00000613706.4:c.871T>A ENSP00000484976.1:p.Leu291Met
ENST00000613706.5:c.1816T>A ENSP00000484976.2:p.Leu606Met
ENST00000617164.4:c.2167T>A ENSP00000480470.1:p.Leu723Met
ENST00000617164.5:c.2167T>A ENSP00000480470.1:p.Leu723Met
ENST00000619009.4:c.685T>A ENSP00000482293.1:p.Leu229Met
ENST00000619009.5:c.685T>A ENSP00000482293.1:p.Leu229Met
ENST00000620057.4:c.*890T>A ENSP00000481988.1:n.*890T>A
ENST00000650978.1:c.3599T>A
XM_011511567.1:c.2170T>A XP_011509869.1:p.Leu724Met
XM_017004613.1:c.2323T>A XP_016860102.1:p.Leu775Met
XR_002959322.1:n.2590T>A