Canonical Allele Identifier: CA367015739
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1351710234
gnomAD v2: 7-19156649-C-G
gnomAD v4: 7-19117026-C-G
MyVariant Identifiers: chr7:g.19156649C>G (hg19) chr7:g.19117026C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117026C>G , CM000669.2:g.19117026C>G GRCh38
NC_000007.13:g.19156649C>G , CM000669.1:g.19156649C>G GRCh37
NC_000007.12:g.19123174C>G NCBI36
NG_008114.1:g.5647G>C
NG_008114.2:g.5647G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.296G>C MANE Select ENSP00000242261.5:p.Ser99Thr
ENST00000242261.5:c.296G>C ENSP00000242261.5:p.Ser99Thr
ENST00000354571.5:c.93G>C
NM_000474.3:c.296G>C NP_000465.1:p.Ser99Thr
XM_011515496.1:c.296G>C XP_011513798.1:p.Ser99Thr
NR_149001.1:n.647G>C
NM_000474.4:c.296G>C MANE Select NP_000465.1:p.Ser99Thr
NR_149001.2:n.611G>C
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