Canonical Allele Identifier: CA367015707
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs372098969
gnomAD v2: 7-19156633-C-A
gnomAD v4: 7-19117010-C-A
MyVariant Identifiers: chr7:g.19156633C>A (hg19) chr7:g.19117010C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117010C>A , CM000669.2:g.19117010C>A GRCh38
NC_000007.13:g.19156633C>A , CM000669.1:g.19156633C>A GRCh37
NC_000007.12:g.19123158C>A NCBI36
NG_008114.1:g.5663G>T
NG_008114.2:g.5663G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.312G>T MANE Select ENSP00000242261.5:p.Glu104Asp
ENST00000242261.5:c.312G>T ENSP00000242261.5:p.Glu104Asp
ENST00000354571.5:c.109G>T
NM_000474.3:c.312G>T NP_000465.1:p.Glu104Asp
XM_011515496.1:c.312G>T XP_011513798.1:p.Glu104Asp
NR_149001.1:n.663G>T
NM_000474.4:c.312G>T MANE Select NP_000465.1:p.Glu104Asp
NR_149001.2:n.627G>T
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