Canonical Allele Identifier: CA155466640
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068879
ClinVar RCV Id: RCV003994939
dbSNP Id: rs192275163
gnomAD v2: 7-19156910-G-A
gnomAD v3: 7-19117287-G-A
gnomAD v4: 7-19117287-G-A
MyVariant Identifiers: chr7:g.19156910G>A (hg19) chr7:g.19117287G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117287G>A , CM000669.2:g.19117287G>A GRCh38
NC_000007.13:g.19156910G>A , CM000669.1:g.19156910G>A GRCh37
NC_000007.12:g.19123435G>A NCBI36
NG_008114.1:g.5386C>T
NG_008114.2:g.5386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.35C>T MANE Select ENSP00000242261.5:p.Pro12Leu
ENST00000242261.5:c.35C>T ENSP00000242261.5:p.Pro12Leu
NM_000474.3:c.35C>T NP_000465.1:p.Pro12Leu
XM_011515496.1:c.35C>T XP_011513798.1:p.Pro12Leu
NR_149001.1:n.386C>T
NM_000474.4:c.35C>T MANE Select NP_000465.1:p.Pro12Leu
NR_149001.2:n.350C>T
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