Canonical Allele Identifier: CA2536844186
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19116526-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116526C>T , CM000669.2:g.19116526C>T GRCh38
NC_000007.13:g.19156149C>T , CM000669.1:g.19156149C>T GRCh37
NC_000007.12:g.19122674C>T NCBI36
NG_008114.1:g.6147G>A
NG_008114.2:g.6147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*42+145G>A MANE Select ENSP00000242261.5:n.*42+145G>A
ENST00000242261.5:c.*42+145G>A ENSP00000242261.5:n.*42+145G>A
ENST00000354571.5:c.448+145G>A
ENST00000443687.5:c.254+145G>A
NM_000474.3:c.*42+145G>A NP_000465.1:n.*42+145G>A
XM_011515496.1:c.*42+145G>A XP_011513798.1:n.*42+145G>A
NR_149001.1:n.1002+145G>A
NM_000474.4:c.*42+145G>A MANE Select NP_000465.1:n.*42+145G>A
NR_149001.2:n.966+145G>A
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