Canonical Allele Identifier: CA367015312
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156451C>A (hg19) chr7:g.19116828C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116828C>A , CM000669.2:g.19116828C>A GRCh38
NC_000007.13:g.19156451C>A , CM000669.1:g.19156451C>A GRCh37
NC_000007.12:g.19122976C>A NCBI36
NG_008114.1:g.5845G>T
NG_008114.2:g.5845G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.494G>T MANE Select ENSP00000242261.5:p.Ser165Ile
ENST00000242261.5:c.494G>T ENSP00000242261.5:p.Ser165Ile
ENST00000354571.5:c.291G>T
ENST00000443687.5:c.97G>T
NM_000474.3:c.494G>T NP_000465.1:p.Ser165Ile
XM_011515496.1:c.494G>T XP_011513798.1:p.Ser165Ile
NR_149001.1:n.845G>T
NM_000474.4:c.494G>T MANE Select NP_000465.1:p.Ser165Ile
NR_149001.2:n.809G>T
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