Canonical Allele Identifier: CA367015210
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156406T>A (hg19) chr7:g.19116783T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116783T>A , CM000669.2:g.19116783T>A GRCh38
NC_000007.13:g.19156406T>A , CM000669.1:g.19156406T>A GRCh37
NC_000007.12:g.19122931T>A NCBI36
NG_008114.1:g.5890A>T
NG_008114.2:g.5890A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.539A>T MANE Select ENSP00000242261.5:p.His180Leu
ENST00000242261.5:c.539A>T ENSP00000242261.5:p.His180Leu
ENST00000354571.5:c.336A>T
ENST00000443687.5:c.142A>T
NM_000474.3:c.539A>T NP_000465.1:p.His180Leu
XM_011515496.1:c.539A>T XP_011513798.1:p.His180Leu
NR_149001.1:n.890A>T
NM_000474.4:c.539A>T MANE Select NP_000465.1:p.His180Leu
NR_149001.2:n.854A>T
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