Canonical Allele Identifier: CA454143432
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1197325556
gnomAD v2: 7-19156438-G-A
gnomAD v4: 7-19116815-G-A
MyVariant Identifiers: chr7:g.19156438G>A (hg19) chr7:g.19116815G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116815G>A , CM000669.2:g.19116815G>A GRCh38
NC_000007.13:g.19156438G>A , CM000669.1:g.19156438G>A GRCh37
NC_000007.12:g.19122963G>A NCBI36
NG_008114.1:g.5858C>T
NG_008114.2:g.5858C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.507C>T MANE Select ENSP00000242261.5:p.Asp169=
ENST00000242261.5:c.507C>T ENSP00000242261.5:p.Asp169=
ENST00000354571.5:c.304C>T
ENST00000443687.5:c.110C>T
NM_000474.3:c.507C>T NP_000465.1:p.Asp169=
XM_011515496.1:c.507C>T XP_011513798.1:p.Asp169=
NR_149001.1:n.858C>T
NM_000474.4:c.507C>T MANE Select NP_000465.1:p.Asp169=
NR_149001.2:n.822C>T
Search 100 bp 5'
Search 100 bp 3'