Canonical Allele Identifier: CA367016037
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 872214
ClinVar RCV Id: RCV001092559 RCV001198915
dbSNP Id: rs1305059157
MyVariant Identifiers: chr7:g.19156793C>T (hg19) chr7:g.19117170C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117170C>T , CM000669.2:g.19117170C>T GRCh38
NC_000007.13:g.19156793C>T , CM000669.1:g.19156793C>T GRCh37
NC_000007.12:g.19123318C>T NCBI36
NG_008114.1:g.5503G>A
NG_008114.2:g.5503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.152G>A MANE Select ENSP00000242261.5:p.Gly51Glu
ENST00000242261.5:c.152G>A ENSP00000242261.5:p.Gly51Glu
NM_000474.3:c.152G>A NP_000465.1:p.Gly51Glu
XM_011515496.1:c.152G>A XP_011513798.1:p.Gly51Glu
NR_149001.1:n.503G>A
NM_000474.4:c.152G>A MANE Select NP_000465.1:p.Gly51Glu
NR_149001.2:n.467G>A
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