Canonical Allele Identifier: CA168100947
Community Standard Title: NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)
Gene: BRAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140794453G>A , CM000669.2:g.140794453G>A GRCh38
NC_000007.13:g.140494253G>A , CM000669.1:g.140494253G>A GRCh37
NC_000007.12:g.140140722G>A NCBI36
NG_007873.3:g.135312C>T , LRG_299:g.135312C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004333.6:c.995C>T MANE Select NP_004324.2:p.Thr332Ile
ENST00000646891.2:c.995C>T MANE Select ENSP00000493543.1:p.Thr332Ile
NM_001374258.1:c.995C>T MANE Plus Clinical NP_001361187.1:p.Thr332Ile
ENST00000644969.2:c.995C>T MANE Plus Clinical ENSP00000496776.1:p.Thr332Ile
NM_001354609.1:c.995C>T NP_001341538.1:p.Thr332Ile
NM_001354609.2:c.995C>T NP_001341538.1:p.Thr332Ile
NM_001374244.1:c.995C>T NP_001361173.1:p.Thr332Ile
NM_001378467.1:c.1004C>T NP_001365396.1:p.Thr335Ile
NM_001378468.1:c.995C>T NP_001365397.1:p.Thr332Ile
NM_001378469.1:c.995C>T NP_001365398.1:p.Thr332Ile
NM_001378470.1:c.893C>T NP_001365399.1:p.Thr298Ile
NM_001378471.1:c.995C>T NP_001365400.1:p.Thr332Ile
NM_001378472.1:c.839C>T NP_001365401.1:p.Thr280Ile
NM_001378473.1:c.839C>T NP_001365402.1:p.Thr280Ile
NM_001378474.1:c.995C>T NP_001365403.1:p.Thr332Ile
NM_001378475.1:c.731C>T NP_001365404.1:p.Thr244Ile
NM_004333.4:c.995C>T , LRG_299t1:c.995C>T NP_004324.2:p.Thr332Ile
NM_004333.5:c.995C>T NP_004324.2:p.Thr332Ile
NR_148928.1:n.1300C>T
ENST00000288602.10:c.995C>T ENSP00000288602.6:p.Thr332Ile
ENST00000288602.11:c.995C>T ENSP00000288602.7:p.Thr332Ile
ENST00000496384.7:c.995C>T ENSP00000419060.2:p.Thr332Ile
ENST00000497784.1:c.1030C>T ENSP00000420119.1:n.1030C>T
ENST00000497784.2:c.*445C>T ENSP00000420119.2:n.*445C>T
ENST00000642228.1:c.*73C>T ENSP00000493678.1:n.*73C>T
ENST00000642875.1:n.475-38C>T
ENST00000644120.1:n.1423-38C>T
ENST00000644650.1:c.91C>T
ENST00000644905.1:n.1084C>T
ENST00000646730.1:c.995C>T ENSP00000494784.1:p.Thr332Ile
ENST00000646891.1:c.995C>T ENSP00000493543.1:p.Thr332Ile
ENST00000647434.1:c.38C>T ENSP00000495132.1:p.Thr13Ile
XM_005250045.1:c.995C>T XP_005250102.1:p.Thr332Ile
XM_005250046.1:c.995C>T XP_005250103.1:p.Thr332Ile
XM_011516529.1:c.995C>T XP_011514831.1:p.Thr332Ile
XM_011516530.1:c.995C>T XP_011514832.1:p.Thr332Ile
XM_017012558.1:c.995C>T XP_016868047.1:p.Thr332Ile
XM_017012559.1:c.995C>T XP_016868048.1:p.Thr332Ile
XR_001744857.1:n.1003C>T
XR_001744858.1:n.1003C>T
XR_242190.1:n.1003C>T
XR_927520.1:n.1003C>T
XR_927521.1:n.1003C>T
XR_927522.1:n.1003C>T
XR_927523.1:n.1003C>T