Canonical Allele Identifier: CA367016179
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117239-T-G
MyVariant Identifiers: chr7:g.19156862T>G (hg19) chr7:g.19117239T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117239T>G , CM000669.2:g.19117239T>G GRCh38
NC_000007.13:g.19156862T>G , CM000669.1:g.19156862T>G GRCh37
NC_000007.12:g.19123387T>G NCBI36
NG_008114.1:g.5434A>C
NG_008114.2:g.5434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.83A>C MANE Select ENSP00000242261.5:p.Gln28Pro
ENST00000242261.5:c.83A>C ENSP00000242261.5:p.Gln28Pro
NM_000474.3:c.83A>C NP_000465.1:p.Gln28Pro
XM_011515496.1:c.83A>C XP_011513798.1:p.Gln28Pro
NR_149001.1:n.434A>C
NM_000474.4:c.83A>C MANE Select NP_000465.1:p.Gln28Pro
NR_149001.2:n.398A>C
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