Canonical Allele Identifier: CA254291
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7978
ClinVar RCV Id: RCV000008442
dbSNP Id: rs121909189

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116930A>G , CM000669.2:g.19116930A>G GRCh38
NC_000007.13:g.19156553A>G , CM000669.1:g.19156553A>G GRCh37
NC_000007.12:g.19123078A>G NCBI36
NG_008114.1:g.5743T>C
NG_008114.2:g.5743T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.392T>C MANE Select ENSP00000242261.5:p.Leu131Pro
ENST00000242261.5:c.392T>C ENSP00000242261.5:p.Leu131Pro
ENST00000354571.5:c.189T>C
NM_000474.3:c.392T>C NP_000465.1:p.Leu131Pro
XM_011515496.1:c.392T>C XP_011513798.1:p.Leu131Pro
NR_149001.1:n.743T>C
NM_000474.4:c.392T>C MANE Select NP_000465.1:p.Leu131Pro
NR_149001.2:n.707T>C