Canonical Allele Identifier: CA367016251
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156895A>C (hg19) chr7:g.19117272A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117272A>C , CM000669.2:g.19117272A>C GRCh38
NC_000007.13:g.19156895A>C , CM000669.1:g.19156895A>C GRCh37
NC_000007.12:g.19123420A>C NCBI36
NG_008114.1:g.5401T>G
NG_008114.2:g.5401T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.50T>G MANE Select ENSP00000242261.5:p.Leu17Arg
ENST00000242261.5:c.50T>G ENSP00000242261.5:p.Leu17Arg
NM_000474.3:c.50T>G NP_000465.1:p.Leu17Arg
XM_011515496.1:c.50T>G XP_011513798.1:p.Leu17Arg
NR_149001.1:n.401T>G
NM_000474.4:c.50T>G MANE Select NP_000465.1:p.Leu17Arg
NR_149001.2:n.365T>G
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