Canonical Allele Identifier: CA454144169
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117235-C-G
MyVariant Identifiers: chr7:g.19156858C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117235C>G , CM000669.2:g.19117235C>G GRCh38
NC_000007.13:g.19156858C>G , CM000669.1:g.19156858C>G GRCh37
NC_000007.12:g.19123383C>G NCBI36
NG_008114.1:g.5438G>C
NG_008114.2:g.5438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.87G>C MANE Select ENSP00000242261.5:p.Pro29=
ENST00000242261.5:c.87G>C ENSP00000242261.5:p.Pro29=
NM_000474.3:c.87G>C NP_000465.1:p.Pro29=
XM_011515496.1:c.87G>C XP_011513798.1:p.Pro29=
NR_149001.1:n.438G>C
NM_000474.4:c.87G>C MANE Select NP_000465.1:p.Pro29=
NR_149001.2:n.402G>C