Canonical Allele Identifier: CA454144165
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1169407789
gnomAD v2: 7-19156855-C-T
gnomAD v4: 7-19117232-C-T
MyVariant Identifiers: chr7:g.19156855C>T (hg19) chr7:g.19117232C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117232C>T , CM000669.2:g.19117232C>T GRCh38
NC_000007.13:g.19156855C>T , CM000669.1:g.19156855C>T GRCh37
NC_000007.12:g.19123380C>T NCBI36
NG_008114.1:g.5441G>A
NG_008114.2:g.5441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.90G>A MANE Select ENSP00000242261.5:p.Pro30=
ENST00000242261.5:c.90G>A ENSP00000242261.5:p.Pro30=
NM_000474.3:c.90G>A NP_000465.1:p.Pro30=
XM_011515496.1:c.90G>A XP_011513798.1:p.Pro30=
NR_149001.1:n.441G>A
NM_000474.4:c.90G>A MANE Select NP_000465.1:p.Pro30=
NR_149001.2:n.405G>A
Search 100 bp 5'
Search 100 bp 3'