Canonical Allele Identifier: CA369588192

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018426
• MyVariant Identifiers: chr7:g.140476821T>G (hg19) ; chr7:g.140777021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777021T>G , CM000669.2:g.140777021T>G	GRCh38
NC_000007.13:g.140476821T>G , CM000669.1:g.140476821T>G	GRCh37
NC_000007.12:g.140123290T>G	NCBI36
NG_007873.3:g.152744A>C , LRG_299:g.152744A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1585A>C MANE Select	ENSP00000493543.1:p.Thr529Pro
ENST00000288602.11:c.1705A>C	ENSP00000288602.7:p.Thr569Pro
ENST00000479537.6:c.255A>C
ENST00000496384.7:c.1585A>C	ENSP00000419060.2:p.Thr529Pro
ENST00000497784.2:c.*1035A>C	ENSP00000420119.2:n.*1035A>C
ENST00000642228.1:c.*663A>C	ENSP00000493678.1:n.*663A>C
ENST00000642875.1:n.1149A>C
ENST00000644120.1:n.1975A>C
ENST00000644650.1:c.681A>C
ENST00000644905.1:n.1674A>C
ENST00000644969.2:c.1705A>C MANE Plus Clinical	ENSP00000496776.1:p.Thr569Pro
ENST00000646730.1:c.1585A>C	ENSP00000494784.1:p.Thr529Pro
ENST00000646891.1:c.1585A>C	ENSP00000493543.1:p.Thr529Pro
ENST00000647434.1:c.628A>C	ENSP00000495132.1:p.Thr210Pro
ENST00000288602.10:c.1585A>C	ENSP00000288602.6:p.Thr529Pro
ENST00000496384.6:c.408A>C
ENST00000497784.1:c.1620A>C	ENSP00000420119.1:n.1620A>C
NM_004333.4:c.1585A>C , LRG_299t1:c.1585A>C	NP_004324.2:p.Thr529Pro
XM_005250045.1:c.1585A>C	XP_005250102.1:p.Thr529Pro
XM_005250046.1:c.1585A>C	XP_005250103.1:p.Thr529Pro
XM_011516529.1:c.1585A>C	XP_011514831.1:p.Thr529Pro
XM_011516530.1:c.1585A>C	XP_011514832.1:p.Thr529Pro
XR_242190.1:n.1593A>C
XR_927520.1:n.1593A>C
XR_927521.1:n.1593A>C
XR_927522.1:n.1593A>C
XR_927523.1:n.1593A>C
NM_001354609.1:c.1585A>C	NP_001341538.1:p.Thr529Pro
NM_004333.5:c.1585A>C	NP_004324.2:p.Thr529Pro
NR_148928.1:n.1890A>C
XM_017012558.1:c.1705A>C	XP_016868047.1:p.Thr569Pro
XM_017012559.1:c.1705A>C	XP_016868048.1:p.Thr569Pro
XR_001744857.1:n.1713A>C
XR_001744858.1:n.1713A>C
NM_001354609.2:c.1585A>C	NP_001341538.1:p.Thr529Pro
NM_001374244.1:c.1705A>C	NP_001361173.1:p.Thr569Pro
NM_001374258.1:c.1705A>C MANE Plus Clinical	NP_001361187.1:p.Thr569Pro
NM_004333.6:c.1585A>C MANE Select	NP_004324.2:p.Thr529Pro
NM_001378467.1:c.1594A>C	NP_001365396.1:p.Thr532Pro
NM_001378468.1:c.1585A>C	NP_001365397.1:p.Thr529Pro
NM_001378469.1:c.1519A>C	NP_001365398.1:p.Thr507Pro
NM_001378470.1:c.1483A>C	NP_001365399.1:p.Thr495Pro
NM_001378471.1:c.1474A>C	NP_001365400.1:p.Thr492Pro
NM_001378472.1:c.1429A>C	NP_001365401.1:p.Thr477Pro
NM_001378473.1:c.1429A>C	NP_001365402.1:p.Thr477Pro
NM_001378474.1:c.1585A>C	NP_001365403.1:p.Thr529Pro
NM_001378475.1:c.1321A>C	NP_001365404.1:p.Thr441Pro