Canonical Allele Identifier: CA367015197
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156398G>T (hg19) chr7:g.19116775G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116775G>T , CM000669.2:g.19116775G>T GRCh38
NC_000007.13:g.19156398G>T , CM000669.1:g.19156398G>T GRCh37
NC_000007.12:g.19122923G>T NCBI36
NG_008114.1:g.5898C>A
NG_008114.2:g.5898C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.547C>A MANE Select ENSP00000242261.5:p.Leu183Ile
ENST00000242261.5:c.547C>A ENSP00000242261.5:p.Leu183Ile
ENST00000354571.5:c.344C>A
ENST00000443687.5:c.150C>A
NM_000474.3:c.547C>A NP_000465.1:p.Leu183Ile
XM_011515496.1:c.547C>A XP_011513798.1:p.Leu183Ile
NR_149001.1:n.898C>A
NM_000474.4:c.547C>A MANE Select NP_000465.1:p.Leu183Ile
NR_149001.2:n.862C>A
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