Canonical Allele Identifier: CA369543927

Gene: BRAF

Linked Data

• dbSNP Id: rs2128999652
• MyVariant Identifiers: chr7:g.140454016G>A (hg19) ; chr7:g.140754216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140754216G>A , CM000669.2:g.140754216G>A	GRCh38
NC_000007.13:g.140454016G>A , CM000669.1:g.140454016G>A	GRCh37
NC_000007.12:g.140100485G>A	NCBI36
NG_007873.3:g.175549C>T , LRG_299:g.175549C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1712C>T MANE Select	ENSP00000493543.1:p.Ser571Leu
ENST00000288602.11:c.1832C>T	ENSP00000288602.7:p.Ser611Leu
ENST00000479537.6:c.382C>T
ENST00000496384.7:c.1712C>T	ENSP00000419060.2:p.Ser571Leu
ENST00000497784.2:c.*1162C>T	ENSP00000420119.2:n.*1162C>T
ENST00000642228.1:c.*790C>T	ENSP00000493678.1:n.*790C>T
ENST00000642875.1:n.1259-4798C>T
ENST00000644120.1:n.2102C>T
ENST00000644650.1:c.808C>T
ENST00000644905.1:n.1801C>T
ENST00000644969.2:c.1832C>T MANE Plus Clinical	ENSP00000496776.1:p.Ser611Leu
ENST00000646730.1:c.*288C>T	ENSP00000494784.1:n.*288C>T
ENST00000646891.1:c.1712C>T	ENSP00000493543.1:p.Ser571Leu
ENST00000647434.1:c.738-4798C>T	ENSP00000495132.1:n.738-4798C>T
ENST00000288602.10:c.1712C>T	ENSP00000288602.6:p.Ser571Leu
ENST00000496384.6:c.535C>T
ENST00000497784.1:c.1747C>T	ENSP00000420119.1:n.1747C>T
NM_004333.4:c.1712C>T , LRG_299t1:c.1712C>T	NP_004324.2:p.Ser571Leu
XM_005250045.1:c.1712C>T	XP_005250102.1:p.Ser571Leu
XM_005250046.1:c.1712C>T	XP_005250103.1:p.Ser571Leu
XM_011516529.1:c.1712C>T	XP_011514831.1:p.Ser571Leu
XM_011516530.1:c.1695-4798C>T	XP_011514832.1:n.1695-4798C>T
XR_242190.1:n.1720C>T
XR_927520.1:n.1720C>T
XR_927521.1:n.1720C>T
XR_927522.1:n.1703-4798C>T
XR_927523.1:n.1703-4798C>T
NM_001354609.1:c.1712C>T	NP_001341538.1:p.Ser571Leu
NM_004333.5:c.1712C>T	NP_004324.2:p.Ser571Leu
NR_148928.1:n.2017C>T
XM_017012558.1:c.1832C>T	XP_016868047.1:p.Ser611Leu
XM_017012559.1:c.1832C>T	XP_016868048.1:p.Ser611Leu
XR_001744857.1:n.1840C>T
XR_001744858.1:n.1823-4798C>T
NM_001354609.2:c.1712C>T	NP_001341538.1:p.Ser571Leu
NM_001374244.1:c.1832C>T	NP_001361173.1:p.Ser611Leu
NM_001374258.1:c.1832C>T MANE Plus Clinical	NP_001361187.1:p.Ser611Leu
NM_004333.6:c.1712C>T MANE Select	NP_004324.2:p.Ser571Leu
NM_001378467.1:c.1721C>T	NP_001365396.1:p.Ser574Leu
NM_001378468.1:c.1712C>T	NP_001365397.1:p.Ser571Leu
NM_001378469.1:c.1646C>T	NP_001365398.1:p.Ser549Leu
NM_001378470.1:c.1610C>T	NP_001365399.1:p.Ser537Leu
NM_001378471.1:c.1601C>T	NP_001365400.1:p.Ser534Leu
NM_001378472.1:c.1556C>T	NP_001365401.1:p.Ser519Leu
NM_001378473.1:c.1556C>T	NP_001365402.1:p.Ser519Leu
NM_001378474.1:c.1712C>T	NP_001365403.1:p.Ser571Leu
NM_001378475.1:c.1448C>T	NP_001365404.1:p.Ser483Leu