Canonical Allele Identifier: CA4174458
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs375138242
gnomAD v2: 7-19156346-G-A
gnomAD v4: 7-19116723-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116723G>A , CM000669.2:g.19116723G>A GRCh38
NC_000007.13:g.19156346G>A , CM000669.1:g.19156346G>A GRCh37
NC_000007.12:g.19122871G>A NCBI36
NG_008114.1:g.5950C>T
NG_008114.2:g.5950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.599C>T MANE Select ENSP00000242261.5:p.Ala200Val
ENST00000242261.5:c.599C>T ENSP00000242261.5:p.Ala200Val
ENST00000354571.5:c.396C>T
ENST00000443687.5:c.202C>T
NM_000474.3:c.599C>T NP_000465.1:p.Ala200Val
XM_011515496.1:c.599C>T XP_011513798.1:p.Ala200Val
NR_149001.1:n.950C>T
NM_000474.4:c.599C>T MANE Select NP_000465.1:p.Ala200Val
NR_149001.2:n.914C>T