Canonical Allele Identifier: CA367016074
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156812T>G (hg19) chr7:g.19117189T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117189T>G , CM000669.2:g.19117189T>G GRCh38
NC_000007.13:g.19156812T>G , CM000669.1:g.19156812T>G GRCh37
NC_000007.12:g.19123337T>G NCBI36
NG_008114.1:g.5484A>C
NG_008114.2:g.5484A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.133A>C MANE Select ENSP00000242261.5:p.Ser45Arg
ENST00000242261.5:c.133A>C ENSP00000242261.5:p.Ser45Arg
NM_000474.3:c.133A>C NP_000465.1:p.Ser45Arg
XM_011515496.1:c.133A>C XP_011513798.1:p.Ser45Arg
NR_149001.1:n.484A>C
NM_000474.4:c.133A>C MANE Select NP_000465.1:p.Ser45Arg
NR_149001.2:n.448A>C
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