Canonical Allele Identifier: CA367015166
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543074
ClinVar RCV Id: RCV000653732
dbSNP Id: rs1554441944
MyVariant Identifiers: chr7:g.19156385A>G (hg19) chr7:g.19116762A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116762A>G , CM000669.2:g.19116762A>G GRCh38
NC_000007.13:g.19156385A>G , CM000669.1:g.19156385A>G GRCh37
NC_000007.12:g.19122910A>G NCBI36
NG_008114.1:g.5911T>C
NG_008114.2:g.5911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.560T>C MANE Select ENSP00000242261.5:p.Phe187Ser
ENST00000242261.5:c.560T>C ENSP00000242261.5:p.Phe187Ser
ENST00000354571.5:c.357T>C
ENST00000443687.5:c.163T>C
NM_000474.3:c.560T>C NP_000465.1:p.Phe187Ser
XM_011515496.1:c.560T>C XP_011513798.1:p.Phe187Ser
NR_149001.1:n.911T>C
NM_000474.4:c.560T>C MANE Select NP_000465.1:p.Phe187Ser
NR_149001.2:n.875T>C
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