Canonical Allele Identifier: CA367015471
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156521T>G (hg19) chr7:g.19116898T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116898T>G , CM000669.2:g.19116898T>G GRCh38
NC_000007.13:g.19156521T>G , CM000669.1:g.19156521T>G GRCh37
NC_000007.12:g.19123046T>G NCBI36
NG_008114.1:g.5775A>C
NG_008114.2:g.5775A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.424A>C MANE Select ENSP00000242261.5:p.Lys142Gln
ENST00000242261.5:c.424A>C ENSP00000242261.5:p.Lys142Gln
ENST00000354571.5:c.221A>C
ENST00000443687.5:c.27A>C
NM_000474.3:c.424A>C NP_000465.1:p.Lys142Gln
XM_011515496.1:c.424A>C XP_011513798.1:p.Lys142Gln
NR_149001.1:n.775A>C
NM_000474.4:c.424A>C MANE Select NP_000465.1:p.Lys142Gln
NR_149001.2:n.739A>C
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