Canonical Allele Identifier: CA454143948
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788589633
gnomAD v4: 7-19117121-G-C
MyVariant Identifiers: chr7:g.19156744G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117121G>C , CM000669.2:g.19117121G>C GRCh38
NC_000007.13:g.19156744G>C , CM000669.1:g.19156744G>C GRCh37
NC_000007.12:g.19123269G>C NCBI36
NG_008114.1:g.5552C>G
NG_008114.2:g.5552C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.201C>G MANE Select ENSP00000242261.5:p.Gly67=
ENST00000242261.5:c.201C>G ENSP00000242261.5:p.Gly67=
NM_000474.3:c.201C>G NP_000465.1:p.Gly67=
XM_011515496.1:c.201C>G XP_011513798.1:p.Gly67=
NR_149001.1:n.552C>G
NM_000474.4:c.201C>G MANE Select NP_000465.1:p.Gly67=
NR_149001.2:n.516C>G
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