Canonical Allele Identifier: CA155466550
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs188412313
gnomAD v2: 7-19156192-A-T
gnomAD v3: 7-19116569-A-T
gnomAD v4: 7-19116569-A-T
MyVariant Identifiers: chr7:g.19156192A>T (hg19) chr7:g.19116569A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116569A>T , CM000669.2:g.19116569A>T GRCh38
NC_000007.13:g.19156192A>T , CM000669.1:g.19156192A>T GRCh37
NC_000007.12:g.19122717A>T NCBI36
NG_008114.1:g.6104T>A
NG_008114.2:g.6104T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*42+102T>A MANE Select ENSP00000242261.5:n.*42+102T>A
ENST00000242261.5:c.*42+102T>A ENSP00000242261.5:n.*42+102T>A
ENST00000354571.5:c.448+102T>A
ENST00000443687.5:c.254+102T>A
NM_000474.3:c.*42+102T>A NP_000465.1:n.*42+102T>A
XM_011515496.1:c.*42+102T>A XP_011513798.1:n.*42+102T>A
NR_149001.1:n.1002+102T>A
NM_000474.4:c.*42+102T>A MANE Select NP_000465.1:n.*42+102T>A
NR_149001.2:n.966+102T>A
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