Canonical Allele Identifier: CA1747710012
Community Standard Title: NM_004333.6(BRAF):c.1790T= (p.Leu597=)
Gene: BRAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753345A= , CM000669.2:g.140753345A= GRCh38
NC_000007.13:g.140453145A= , CM000669.1:g.140453145A= GRCh37
NC_000007.12:g.140099614A= NCBI36
NG_007873.3:g.176420T= , LRG_299:g.176420T=

Transcript Alleles

HGVS Amino-acid Change
NM_004333.6:c.1790T= MANE Select NP_004324.2:p.Leu597=
ENST00000646891.2:c.1790T= MANE Select ENSP00000493543.1:p.Leu597=
NM_001374258.1:c.1910T= MANE Plus Clinical NP_001361187.1:p.Leu637=
ENST00000644969.2:c.1910T= MANE Plus Clinical ENSP00000496776.1:p.Leu637=
NM_001354609.1:c.1790T= NP_001341538.1:p.Leu597=
NM_001354609.2:c.1790T= NP_001341538.1:p.Leu597=
NM_001374244.1:c.1910T= NP_001361173.1:p.Leu637=
NM_001378467.1:c.1799T= NP_001365396.1:p.Leu600=
NM_001378468.1:c.1790T= NP_001365397.1:p.Leu597=
NM_001378469.1:c.1724T= NP_001365398.1:p.Leu575=
NM_001378470.1:c.1688T= NP_001365399.1:p.Leu563=
NM_001378471.1:c.1679T= NP_001365400.1:p.Leu560=
NM_001378472.1:c.1634T= NP_001365401.1:p.Leu545=
NM_001378473.1:c.1634T= NP_001365402.1:p.Leu545=
NM_001378474.1:c.1790T= NP_001365403.1:p.Leu597=
NM_001378475.1:c.1526T= NP_001365404.1:p.Leu509=
NM_004333.4:c.1790T= , LRG_299t1:c.1790T= NP_004324.2:p.Leu597=
NM_004333.5:c.1790T= NP_004324.2:p.Leu597=
NR_148928.1:n.2888T=
ENST00000288602.10:c.1790T= ENSP00000288602.6:p.Leu597=
ENST00000288602.11:c.1910T= ENSP00000288602.7:p.Leu637=
ENST00000479537.5:c.74T= ENSP00000418033.1:p.Leu25=
ENST00000479537.6:c.460T=
ENST00000496384.6:c.613T=
ENST00000496384.7:c.1790T= ENSP00000419060.2:p.Leu597=
ENST00000497784.1:c.1825T= ENSP00000420119.1:n.1825T=
ENST00000497784.2:c.*1240T= ENSP00000420119.2:n.*1240T=
ENST00000642228.1:c.*868T= ENSP00000493678.1:n.*868T=
ENST00000642875.1:n.1259-3927T=
ENST00000644120.1:n.2180T=
ENST00000644650.1:c.886T=
ENST00000644905.1:n.2672T=
ENST00000646730.1:c.*366T= ENSP00000494784.1:n.*366T=
ENST00000646891.1:c.1790T= ENSP00000493543.1:p.Leu597=
ENST00000647434.1:c.738-3927T= ENSP00000495132.1:n.738-3927T=
XM_005250045.1:c.1790T= XP_005250102.1:p.Leu597=
XM_005250046.1:c.1790T= XP_005250103.1:p.Leu597=
XM_011516529.1:c.1790T= XP_011514831.1:p.Leu597=
XM_011516530.1:c.1695-3927T= XP_011514832.1:n.1695-3927T=
XM_017012558.1:c.1910T= XP_016868047.1:p.Leu637=
XM_017012559.1:c.1910T= XP_016868048.1:p.Leu637=
XR_001744857.1:n.1918T=
XR_001744858.1:n.1823-3927T=
XR_242190.1:n.1798T=
XR_927520.1:n.1798T=
XR_927521.1:n.1798T=
XR_927522.1:n.1703-3927T=
XR_927523.1:n.1703-3927T=