Canonical Allele Identifier: CA367015153
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1303554812
gnomAD v2: 7-19156379-A-G
gnomAD v4: 7-19116756-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116756A>G , CM000669.2:g.19116756A>G GRCh38
NC_000007.13:g.19156379A>G , CM000669.1:g.19156379A>G GRCh37
NC_000007.12:g.19122904A>G NCBI36
NG_008114.1:g.5917T>C
NG_008114.2:g.5917T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.566T>C MANE Select ENSP00000242261.5:p.Val189Ala
ENST00000242261.5:c.566T>C ENSP00000242261.5:p.Val189Ala
ENST00000354571.5:c.363T>C
ENST00000443687.5:c.169T>C
NM_000474.3:c.566T>C NP_000465.1:p.Val189Ala
XM_011515496.1:c.566T>C XP_011513798.1:p.Val189Ala
NR_149001.1:n.917T>C
NM_000474.4:c.566T>C MANE Select NP_000465.1:p.Val189Ala
NR_149001.2:n.881T>C