Canonical Allele Identifier: CA369588423

Gene: BRAF

Linked Data

• dbSNP Id: rs2129019571
• MyVariant Identifiers: chr7:g.140477825A>T (hg19) ; chr7:g.140778025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140778025A>T , CM000669.2:g.140778025A>T	GRCh38
NC_000007.13:g.140477825A>T , CM000669.1:g.140477825A>T	GRCh37
NC_000007.12:g.140124294A>T	NCBI36
NG_007873.3:g.151740T>A , LRG_299:g.151740T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1483T>A MANE Select	ENSP00000493543.1:p.Leu495Ile
ENST00000288602.11:c.1603T>A	ENSP00000288602.7:p.Leu535Ile
ENST00000479537.6:c.153T>A
ENST00000496384.7:c.1483T>A	ENSP00000419060.2:p.Leu495Ile
ENST00000497784.2:c.*933T>A	ENSP00000420119.2:n.*933T>A
ENST00000642228.1:c.*561T>A	ENSP00000493678.1:n.*561T>A
ENST00000642875.1:n.1047T>A
ENST00000644120.1:n.1873T>A
ENST00000644650.1:c.579T>A
ENST00000644905.1:n.1572T>A
ENST00000644969.2:c.1603T>A MANE Plus Clinical	ENSP00000496776.1:p.Leu535Ile
ENST00000646730.1:c.1483T>A	ENSP00000494784.1:p.Leu495Ile
ENST00000646891.1:c.1483T>A	ENSP00000493543.1:p.Leu495Ile
ENST00000647434.1:c.526T>A	ENSP00000495132.1:p.Leu176Ile
ENST00000288602.10:c.1483T>A	ENSP00000288602.6:p.Leu495Ile
ENST00000496384.6:c.306T>A
ENST00000497784.1:c.1518T>A	ENSP00000420119.1:n.1518T>A
NM_004333.4:c.1483T>A , LRG_299t1:c.1483T>A	NP_004324.2:p.Leu495Ile
XM_005250045.1:c.1483T>A	XP_005250102.1:p.Leu495Ile
XM_005250046.1:c.1483T>A	XP_005250103.1:p.Leu495Ile
XM_011516529.1:c.1483T>A	XP_011514831.1:p.Leu495Ile
XM_011516530.1:c.1483T>A	XP_011514832.1:p.Leu495Ile
XR_242190.1:n.1491T>A
XR_927520.1:n.1491T>A
XR_927521.1:n.1491T>A
XR_927522.1:n.1491T>A
XR_927523.1:n.1491T>A
NM_001354609.1:c.1483T>A	NP_001341538.1:p.Leu495Ile
NM_004333.5:c.1483T>A	NP_004324.2:p.Leu495Ile
NR_148928.1:n.1788T>A
XM_017012558.1:c.1603T>A	XP_016868047.1:p.Leu535Ile
XM_017012559.1:c.1603T>A	XP_016868048.1:p.Leu535Ile
XR_001744857.1:n.1611T>A
XR_001744858.1:n.1611T>A
NM_001354609.2:c.1483T>A	NP_001341538.1:p.Leu495Ile
NM_001374244.1:c.1603T>A	NP_001361173.1:p.Leu535Ile
NM_001374258.1:c.1603T>A MANE Plus Clinical	NP_001361187.1:p.Leu535Ile
NM_004333.6:c.1483T>A MANE Select	NP_004324.2:p.Leu495Ile
NM_001378467.1:c.1492T>A	NP_001365396.1:p.Leu498Ile
NM_001378468.1:c.1483T>A	NP_001365397.1:p.Leu495Ile
NM_001378469.1:c.1417T>A	NP_001365398.1:p.Leu473Ile
NM_001378470.1:c.1381T>A	NP_001365399.1:p.Leu461Ile
NM_001378471.1:c.1372T>A	NP_001365400.1:p.Leu458Ile
NM_001378472.1:c.1327T>A	NP_001365401.1:p.Leu443Ile
NM_001378473.1:c.1327T>A	NP_001365402.1:p.Leu443Ile
NM_001378474.1:c.1483T>A	NP_001365403.1:p.Leu495Ile
NM_001378475.1:c.1219T>A	NP_001365404.1:p.Leu407Ile