Canonical Allele Identifier: CA367015304
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156447G>T (hg19) chr7:g.19116824G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116824G>T , CM000669.2:g.19116824G>T GRCh38
NC_000007.13:g.19156447G>T , CM000669.1:g.19156447G>T GRCh37
NC_000007.12:g.19122972G>T NCBI36
NG_008114.1:g.5849C>A
NG_008114.2:g.5849C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.498C>A MANE Select ENSP00000242261.5:p.Asp166Glu
ENST00000242261.5:c.498C>A ENSP00000242261.5:p.Asp166Glu
ENST00000354571.5:c.295C>A
ENST00000443687.5:c.101C>A
NM_000474.3:c.498C>A NP_000465.1:p.Asp166Glu
XM_011515496.1:c.498C>A XP_011513798.1:p.Asp166Glu
NR_149001.1:n.849C>A
NM_000474.4:c.498C>A MANE Select NP_000465.1:p.Asp166Glu
NR_149001.2:n.813C>A
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