Canonical Allele Identifier: CA369537252
Community Standard Title: NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)
Gene: BRAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140734707G>A , CM000669.2:g.140734707G>A GRCh38
NC_000007.13:g.140434507G>A , CM000669.1:g.140434507G>A GRCh37
NC_000007.12:g.140080976G>A NCBI36
NG_007873.3:g.195058C>T , LRG_299:g.195058C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004333.6:c.2191C>T MANE Select NP_004324.2:p.Pro731Ser
ENST00000646891.2:c.2191C>T MANE Select ENSP00000493543.1:p.Pro731Ser
NM_001374258.1:c.2311C>T MANE Plus Clinical NP_001361187.1:p.Pro771Ser
ENST00000644969.2:c.2311C>T MANE Plus Clinical ENSP00000496776.1:p.Pro771Ser
NM_001354609.1:c.2191C>T NP_001341538.1:p.Pro731Ser
NM_001354609.2:c.2191C>T NP_001341538.1:p.Pro731Ser
NM_001374244.1:c.2311C>T NP_001361173.1:p.Pro771Ser
NM_001378467.1:c.2200C>T NP_001365396.1:p.Pro734Ser
NM_001378468.1:c.2127+5105C>T NP_001365397.1:n.2127+5105C>T
NM_001378469.1:c.2125C>T NP_001365398.1:p.Pro709Ser
NM_001378470.1:c.2089C>T NP_001365399.1:p.Pro697Ser
NM_001378471.1:c.2080C>T NP_001365400.1:p.Pro694Ser
NM_001378472.1:c.2035C>T NP_001365401.1:p.Pro679Ser
NM_001378473.1:c.2035C>T NP_001365402.1:p.Pro679Ser
NM_001378474.1:c.2127+5105C>T NP_001365403.1:n.2127+5105C>T
NM_001378475.1:c.1927C>T NP_001365404.1:p.Pro643Ser
NM_004333.4:c.2191C>T , LRG_299t1:c.2191C>T NP_004324.2:p.Pro731Ser
NM_004333.5:c.2191C>T NP_004324.2:p.Pro731Ser
NR_148928.1:n.3289C>T
ENST00000288602.10:c.2191C>T ENSP00000288602.6:p.Pro731Ser
ENST00000288602.11:c.2311C>T ENSP00000288602.7:p.Pro771Ser
ENST00000479537.5:c.557C>T ENSP00000418033.1:n.557C>T
ENST00000479537.6:c.943C>T
ENST00000496384.6:c.1014C>T
ENST00000496384.7:c.2191C>T ENSP00000419060.2:p.Pro731Ser
ENST00000497784.1:c.2226C>T ENSP00000420119.1:n.2226C>T
ENST00000497784.2:c.*1641C>T ENSP00000420119.2:n.*1641C>T
ENST00000642228.1:c.*1269C>T ENSP00000493678.1:n.*1269C>T
ENST00000642875.1:n.1589C>T
ENST00000644120.1:n.2517+5105C>T
ENST00000644650.1:c.1490C>T
ENST00000644905.1:n.3073C>T
ENST00000645443.1:n.1970C>T
ENST00000646730.1:c.*849C>T ENSP00000494784.1:n.*849C>T
ENST00000646891.1:c.2191C>T ENSP00000493543.1:p.Pro731Ser
ENST00000647434.1:c.1068C>T ENSP00000495132.1:n.1068C>T
XM_005250045.1:c.2191C>T XP_005250102.1:p.Pro731Ser
XM_005250046.1:c.2127+5105C>T XP_005250103.1:n.2127+5105C>T
XM_011516529.1:c.2127+5105C>T XP_011514831.1:n.2127+5105C>T
XM_017012558.1:c.2311C>T XP_016868047.1:p.Pro771Ser
XM_017012559.1:c.2247+5105C>T XP_016868048.1:n.2247+5105C>T
XR_001744857.1:n.2401C>T
XR_001744858.1:n.2153C>T
XR_242190.1:n.2281C>T
XR_927520.1:n.2320C>T
XR_927521.1:n.2402C>T
XR_927522.1:n.2033C>T
XR_927523.1:n.2115C>T