Canonical Allele Identifier: CA367016107
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117204-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117204G>T , CM000669.2:g.19117204G>T GRCh38
NC_000007.13:g.19156827G>T , CM000669.1:g.19156827G>T GRCh37
NC_000007.12:g.19123352G>T NCBI36
NG_008114.1:g.5469C>A
NG_008114.2:g.5469C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.118C>A MANE Select ENSP00000242261.5:p.Arg40Ser
ENST00000242261.5:c.118C>A ENSP00000242261.5:p.Arg40Ser
NM_000474.3:c.118C>A NP_000465.1:p.Arg40Ser
XM_011515496.1:c.118C>A XP_011513798.1:p.Arg40Ser
NR_149001.1:n.469C>A
NM_000474.4:c.118C>A MANE Select NP_000465.1:p.Arg40Ser
NR_149001.2:n.433C>A