Canonical Allele Identifier: CA369543193
Gene: BRAF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753363T>A , CM000669.2:g.140753363T>A GRCh38
NC_000007.13:g.140453163T>A , CM000669.1:g.140453163T>A GRCh37
NC_000007.12:g.140099632T>A NCBI36
NG_007873.3:g.176402A>T , LRG_299:g.176402A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1772A>T MANE Select ENSP00000493543.1:p.Lys591Ile
ENST00000288602.11:c.1892A>T ENSP00000288602.7:p.Lys631Ile
ENST00000479537.6:c.442A>T
ENST00000496384.7:c.1772A>T ENSP00000419060.2:p.Lys591Ile
ENST00000497784.2:c.*1222A>T ENSP00000420119.2:n.*1222A>T
ENST00000642228.1:c.*850A>T ENSP00000493678.1:n.*850A>T
ENST00000642875.1:n.1259-3945A>T
ENST00000644120.1:n.2162A>T
ENST00000644650.1:c.868A>T
ENST00000644905.1:n.2654A>T
ENST00000644969.2:c.1892A>T MANE Plus Clinical ENSP00000496776.1:p.Lys631Ile
ENST00000646730.1:c.*348A>T ENSP00000494784.1:n.*348A>T
ENST00000646891.1:c.1772A>T ENSP00000493543.1:p.Lys591Ile
ENST00000647434.1:c.738-3945A>T ENSP00000495132.1:n.738-3945A>T
ENST00000288602.10:c.1772A>T ENSP00000288602.6:p.Lys591Ile
ENST00000479537.5:c.56A>T ENSP00000418033.1:p.Lys19Ile
ENST00000496384.6:c.595A>T
ENST00000497784.1:c.1807A>T ENSP00000420119.1:n.1807A>T
NM_004333.4:c.1772A>T , LRG_299t1:c.1772A>T NP_004324.2:p.Lys591Ile
XM_005250045.1:c.1772A>T XP_005250102.1:p.Lys591Ile
XM_005250046.1:c.1772A>T XP_005250103.1:p.Lys591Ile
XM_011516529.1:c.1772A>T XP_011514831.1:p.Lys591Ile
XM_011516530.1:c.1695-3945A>T XP_011514832.1:n.1695-3945A>T
XR_242190.1:n.1780A>T
XR_927520.1:n.1780A>T
XR_927521.1:n.1780A>T
XR_927522.1:n.1703-3945A>T
XR_927523.1:n.1703-3945A>T
NM_001354609.1:c.1772A>T NP_001341538.1:p.Lys591Ile
NM_004333.5:c.1772A>T NP_004324.2:p.Lys591Ile
NR_148928.1:n.2870A>T
XM_017012558.1:c.1892A>T XP_016868047.1:p.Lys631Ile
XM_017012559.1:c.1892A>T XP_016868048.1:p.Lys631Ile
XR_001744857.1:n.1900A>T
XR_001744858.1:n.1823-3945A>T
NM_001354609.2:c.1772A>T NP_001341538.1:p.Lys591Ile
NM_001374244.1:c.1892A>T NP_001361173.1:p.Lys631Ile
NM_001374258.1:c.1892A>T MANE Plus Clinical NP_001361187.1:p.Lys631Ile
NM_004333.6:c.1772A>T MANE Select NP_004324.2:p.Lys591Ile
NM_001378467.1:c.1781A>T NP_001365396.1:p.Lys594Ile
NM_001378468.1:c.1772A>T NP_001365397.1:p.Lys591Ile
NM_001378469.1:c.1706A>T NP_001365398.1:p.Lys569Ile
NM_001378470.1:c.1670A>T NP_001365399.1:p.Lys557Ile
NM_001378471.1:c.1661A>T NP_001365400.1:p.Lys554Ile
NM_001378472.1:c.1616A>T NP_001365401.1:p.Lys539Ile
NM_001378473.1:c.1616A>T NP_001365402.1:p.Lys539Ile
NM_001378474.1:c.1772A>T NP_001365403.1:p.Lys591Ile
NM_001378475.1:c.1508A>T NP_001365404.1:p.Lys503Ile