Canonical Allele Identifier: CA367015933
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1170238284
gnomAD v2: 7-19156741-G-T
gnomAD v4: 7-19117118-G-T
MyVariant Identifiers: chr7:g.19156741G>T (hg19) chr7:g.19117118G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117118G>T , CM000669.2:g.19117118G>T GRCh38
NC_000007.13:g.19156741G>T , CM000669.1:g.19156741G>T GRCh37
NC_000007.12:g.19123266G>T NCBI36
NG_008114.1:g.5555C>A
NG_008114.2:g.5555C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.204C>A MANE Select ENSP00000242261.5:p.Ser68Arg
ENST00000242261.5:c.204C>A ENSP00000242261.5:p.Ser68Arg
ENST00000354571.5:c.1C>A
NM_000474.3:c.204C>A NP_000465.1:p.Ser68Arg
XM_011515496.1:c.204C>A XP_011513798.1:p.Ser68Arg
NR_149001.1:n.555C>A
NM_000474.4:c.204C>A MANE Select NP_000465.1:p.Ser68Arg
NR_149001.2:n.519C>A
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