Canonical Allele Identifier: CA155466594
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs202071774
gnomAD v2: 7-19156614-C-T
gnomAD v3: 7-19116991-C-T
gnomAD v4: 7-19116991-C-T
MyVariant Identifiers: chr7:g.19156614C>T (hg19) chr7:g.19116991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116991C>T , CM000669.2:g.19116991C>T GRCh38
NC_000007.13:g.19156614C>T , CM000669.1:g.19156614C>T GRCh37
NC_000007.12:g.19123139C>T NCBI36
NG_008114.1:g.5682G>A
NG_008114.2:g.5682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.331G>A MANE Select ENSP00000242261.5:p.Val111Ile
ENST00000242261.5:c.331G>A ENSP00000242261.5:p.Val111Ile
ENST00000354571.5:c.128G>A
NM_000474.3:c.331G>A NP_000465.1:p.Val111Ile
XM_011515496.1:c.331G>A XP_011513798.1:p.Val111Ile
NR_149001.1:n.682G>A
NM_000474.4:c.331G>A MANE Select NP_000465.1:p.Val111Ile
NR_149001.2:n.646G>A
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