Canonical Allele Identifier: CA155466607
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1046396546
gnomAD v2: 7-19156681-G-C
gnomAD v3: 7-19117058-G-C
gnomAD v4: 7-19117058-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117058G>C , CM000669.2:g.19117058G>C GRCh38
NC_000007.13:g.19156681G>C , CM000669.1:g.19156681G>C GRCh37
NC_000007.12:g.19123206G>C NCBI36
NG_008114.1:g.5615C>G
NG_008114.2:g.5615C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.264C>G MANE Select ENSP00000242261.5:p.Gly88=
ENST00000242261.5:c.264C>G ENSP00000242261.5:p.Gly88=
ENST00000354571.5:c.61C>G
NM_000474.3:c.264C>G NP_000465.1:p.Gly88=
XM_011515496.1:c.264C>G XP_011513798.1:p.Gly88=
NR_149001.1:n.615C>G
NM_000474.4:c.264C>G MANE Select NP_000465.1:p.Gly88=
NR_149001.2:n.579C>G