Canonical Allele Identifier: CA2681939074
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19116524-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116524G>T , CM000669.2:g.19116524G>T GRCh38
NC_000007.13:g.19156147G>T , CM000669.1:g.19156147G>T GRCh37
NC_000007.12:g.19122672G>T NCBI36
NG_008114.1:g.6149C>A
NG_008114.2:g.6149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*42+147C>A MANE Select ENSP00000242261.5:n.*42+147C>A
ENST00000242261.5:c.*42+147C>A ENSP00000242261.5:n.*42+147C>A
ENST00000354571.5:c.448+147C>A
ENST00000443687.5:c.254+147C>A
NM_000474.3:c.*42+147C>A NP_000465.1:n.*42+147C>A
XM_011515496.1:c.*42+147C>A XP_011513798.1:n.*42+147C>A
NR_149001.1:n.1002+147C>A
NM_000474.4:c.*42+147C>A MANE Select NP_000465.1:n.*42+147C>A
NR_149001.2:n.966+147C>A
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