Canonical Allele Identifier: CA367015328
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156458G>C (hg19) chr7:g.19116835G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116835G>C , CM000669.2:g.19116835G>C GRCh38
NC_000007.13:g.19156458G>C , CM000669.1:g.19156458G>C GRCh37
NC_000007.12:g.19122983G>C NCBI36
NG_008114.1:g.5838C>G
NG_008114.2:g.5838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.487C>G MANE Select ENSP00000242261.5:p.Leu163Val
ENST00000242261.5:c.487C>G ENSP00000242261.5:p.Leu163Val
ENST00000354571.5:c.284C>G
ENST00000443687.5:c.90C>G
NM_000474.3:c.487C>G NP_000465.1:p.Leu163Val
XM_011515496.1:c.487C>G XP_011513798.1:p.Leu163Val
NR_149001.1:n.838C>G
NM_000474.4:c.487C>G MANE Select NP_000465.1:p.Leu163Val
NR_149001.2:n.802C>G
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