Canonical Allele Identifier: CA254283
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7973
dbSNP Id: rs121909186

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117014dup , CM000669.2:g.19117014dup GRCh38
NC_000007.13:g.19156637dup , CM000669.1:g.19156637dup GRCh37
NC_000007.12:g.19123162dup NCBI36
NG_008114.1:g.5659dup
NG_008114.2:g.5659dup

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.308dup MANE Select ENSP00000242261.5:p.Tyr103Ter
ENST00000242261.5:c.308dup ENSP00000242261.5:p.Tyr103Ter
ENST00000354571.5:c.105dup
NM_000474.3:c.308dup NP_000465.1:p.Tyr103Ter
XM_011515496.1:c.308dup XP_011513798.1:p.Tyr103Ter
NR_149001.1:n.659dup
NM_000474.4:c.308dup MANE Select NP_000465.1:p.Tyr103Ter
NR_149001.2:n.623dup