Canonical Allele Identifier: CA369543042
Community Standard Title: NM_004333.6(BRAF):c.1801A>T (p.Lys601Ter)
Gene: BRAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753334T>A , CM000669.2:g.140753334T>A GRCh38
NC_000007.13:g.140453134T>A , CM000669.1:g.140453134T>A GRCh37
NC_000007.12:g.140099603T>A NCBI36
NG_007873.3:g.176431A>T , LRG_299:g.176431A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004333.6:c.1801A>T MANE Select NP_004324.2:p.Lys601Ter
ENST00000646891.2:c.1801A>T MANE Select ENSP00000493543.1:p.Lys601Ter
NM_001374258.1:c.1921A>T MANE Plus Clinical NP_001361187.1:p.Lys641Ter
ENST00000644969.2:c.1921A>T MANE Plus Clinical ENSP00000496776.1:p.Lys641Ter
NM_001354609.1:c.1801A>T NP_001341538.1:p.Lys601Ter
NM_001354609.2:c.1801A>T NP_001341538.1:p.Lys601Ter
NM_001374244.1:c.1921A>T NP_001361173.1:p.Lys641Ter
NM_001378467.1:c.1810A>T NP_001365396.1:p.Lys604Ter
NM_001378468.1:c.1801A>T NP_001365397.1:p.Lys601Ter
NM_001378469.1:c.1735A>T NP_001365398.1:p.Lys579Ter
NM_001378470.1:c.1699A>T NP_001365399.1:p.Lys567Ter
NM_001378471.1:c.1690A>T NP_001365400.1:p.Lys564Ter
NM_001378472.1:c.1645A>T NP_001365401.1:p.Lys549Ter
NM_001378473.1:c.1645A>T NP_001365402.1:p.Lys549Ter
NM_001378474.1:c.1801A>T NP_001365403.1:p.Lys601Ter
NM_001378475.1:c.1537A>T NP_001365404.1:p.Lys513Ter
NM_004333.4:c.1801A>T , LRG_299t1:c.1801A>T NP_004324.2:p.Lys601Ter
NM_004333.5:c.1801A>T NP_004324.2:p.Lys601Ter
NR_148928.1:n.2899A>T
ENST00000288602.10:c.1801A>T ENSP00000288602.6:p.Lys601Ter
ENST00000288602.11:c.1921A>T ENSP00000288602.7:p.Lys641Ter
ENST00000479537.5:c.85A>T ENSP00000418033.1:p.Lys29Ter
ENST00000479537.6:c.471A>T
ENST00000496384.6:c.624A>T
ENST00000496384.7:c.1801A>T ENSP00000419060.2:p.Lys601Ter
ENST00000497784.1:c.1836A>T ENSP00000420119.1:n.1836A>T
ENST00000497784.2:c.*1251A>T ENSP00000420119.2:n.*1251A>T
ENST00000642228.1:c.*879A>T ENSP00000493678.1:n.*879A>T
ENST00000642875.1:n.1259-3916A>T
ENST00000644120.1:n.2191A>T
ENST00000644650.1:c.897A>T
ENST00000644905.1:n.2683A>T
ENST00000646730.1:c.*377A>T ENSP00000494784.1:n.*377A>T
ENST00000646891.1:c.1801A>T ENSP00000493543.1:p.Lys601Ter
ENST00000647434.1:c.738-3916A>T ENSP00000495132.1:n.738-3916A>T
XM_005250045.1:c.1801A>T XP_005250102.1:p.Lys601Ter
XM_005250046.1:c.1801A>T XP_005250103.1:p.Lys601Ter
XM_011516529.1:c.1801A>T XP_011514831.1:p.Lys601Ter
XM_011516530.1:c.1695-3916A>T XP_011514832.1:n.1695-3916A>T
XM_017012558.1:c.1921A>T XP_016868047.1:p.Lys641Ter
XM_017012559.1:c.1921A>T XP_016868048.1:p.Lys641Ter
XR_001744857.1:n.1929A>T
XR_001744858.1:n.1823-3916A>T
XR_242190.1:n.1809A>T
XR_927520.1:n.1809A>T
XR_927521.1:n.1809A>T
XR_927522.1:n.1703-3916A>T
XR_927523.1:n.1703-3916A>T