Canonical Allele Identifier: CA369587892
Gene: BRAF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140776949G>T , CM000669.2:g.140776949G>T GRCh38
NC_000007.13:g.140476749G>T , CM000669.1:g.140476749G>T GRCh37
NC_000007.12:g.140123218G>T NCBI36
NG_007873.3:g.152816C>A , LRG_299:g.152816C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1657C>A MANE Select ENSP00000493543.1:p.Leu553Ile
ENST00000288602.11:c.1777C>A ENSP00000288602.7:p.Leu593Ile
ENST00000479537.6:c.327C>A
ENST00000496384.7:c.1657C>A ENSP00000419060.2:p.Leu553Ile
ENST00000497784.2:c.*1107C>A ENSP00000420119.2:n.*1107C>A
ENST00000642228.1:c.*735C>A ENSP00000493678.1:n.*735C>A
ENST00000642875.1:n.1221C>A
ENST00000644120.1:n.2047C>A
ENST00000644650.1:c.753C>A
ENST00000644905.1:n.1746C>A
ENST00000644969.2:c.1777C>A MANE Plus Clinical ENSP00000496776.1:p.Leu593Ile
ENST00000646730.1:c.1657C>A ENSP00000494784.1:p.Leu553Ile
ENST00000646891.1:c.1657C>A ENSP00000493543.1:p.Leu553Ile
ENST00000647434.1:c.700C>A ENSP00000495132.1:p.Leu234Ile
ENST00000288602.10:c.1657C>A ENSP00000288602.6:p.Leu553Ile
ENST00000496384.6:c.480C>A
ENST00000497784.1:c.1692C>A ENSP00000420119.1:n.1692C>A
NM_004333.4:c.1657C>A , LRG_299t1:c.1657C>A NP_004324.2:p.Leu553Ile
XM_005250045.1:c.1657C>A XP_005250102.1:p.Leu553Ile
XM_005250046.1:c.1657C>A XP_005250103.1:p.Leu553Ile
XM_011516529.1:c.1657C>A XP_011514831.1:p.Leu553Ile
XM_011516530.1:c.1657C>A XP_011514832.1:p.Leu553Ile
XR_242190.1:n.1665C>A
XR_927520.1:n.1665C>A
XR_927521.1:n.1665C>A
XR_927522.1:n.1665C>A
XR_927523.1:n.1665C>A
NM_001354609.1:c.1657C>A NP_001341538.1:p.Leu553Ile
NM_004333.5:c.1657C>A NP_004324.2:p.Leu553Ile
NR_148928.1:n.1962C>A
XM_017012558.1:c.1777C>A XP_016868047.1:p.Leu593Ile
XM_017012559.1:c.1777C>A XP_016868048.1:p.Leu593Ile
XR_001744857.1:n.1785C>A
XR_001744858.1:n.1785C>A
NM_001354609.2:c.1657C>A NP_001341538.1:p.Leu553Ile
NM_001374244.1:c.1777C>A NP_001361173.1:p.Leu593Ile
NM_001374258.1:c.1777C>A MANE Plus Clinical NP_001361187.1:p.Leu593Ile
NM_004333.6:c.1657C>A MANE Select NP_004324.2:p.Leu553Ile
NM_001378467.1:c.1666C>A NP_001365396.1:p.Leu556Ile
NM_001378468.1:c.1657C>A NP_001365397.1:p.Leu553Ile
NM_001378469.1:c.1591C>A NP_001365398.1:p.Leu531Ile
NM_001378470.1:c.1555C>A NP_001365399.1:p.Leu519Ile
NM_001378471.1:c.1546C>A NP_001365400.1:p.Leu516Ile
NM_001378472.1:c.1501C>A NP_001365401.1:p.Leu501Ile
NM_001378473.1:c.1501C>A NP_001365402.1:p.Leu501Ile
NM_001378474.1:c.1657C>A NP_001365403.1:p.Leu553Ile
NM_001378475.1:c.1393C>A NP_001365404.1:p.Leu465Ile