Canonical Allele Identifier: CA367015427
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156503T>C (hg19) chr7:g.19116880T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116880T>C , CM000669.2:g.19116880T>C GRCh38
NC_000007.13:g.19156503T>C , CM000669.1:g.19156503T>C GRCh37
NC_000007.12:g.19123028T>C NCBI36
NG_008114.1:g.5793A>G
NG_008114.2:g.5793A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.442A>G MANE Select ENSP00000242261.5:p.Thr148Ala
ENST00000242261.5:c.442A>G ENSP00000242261.5:p.Thr148Ala
ENST00000354571.5:c.239A>G
ENST00000443687.5:c.45A>G
NM_000474.3:c.442A>G NP_000465.1:p.Thr148Ala
XM_011515496.1:c.442A>G XP_011513798.1:p.Thr148Ala
NR_149001.1:n.793A>G
NM_000474.4:c.442A>G MANE Select NP_000465.1:p.Thr148Ala
NR_149001.2:n.757A>G
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