Canonical Allele Identifier: CA454143869
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v3: 7-19117079-A-G
gnomAD v4: 7-19117079-A-G
MyVariant Identifiers: chr7:g.19156702A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117079A>G , CM000669.2:g.19117079A>G GRCh38
NC_000007.13:g.19156702A>G , CM000669.1:g.19156702A>G GRCh37
NC_000007.12:g.19123227A>G NCBI36
NG_008114.1:g.5594T>C
NG_008114.2:g.5594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.243T>C MANE Select ENSP00000242261.5:p.Cys81=
ENST00000242261.5:c.243T>C ENSP00000242261.5:p.Cys81=
ENST00000354571.5:c.40T>C
NM_000474.3:c.243T>C NP_000465.1:p.Cys81=
XM_011515496.1:c.243T>C XP_011513798.1:p.Cys81=
NR_149001.1:n.594T>C
NM_000474.4:c.243T>C MANE Select NP_000465.1:p.Cys81=
NR_149001.2:n.558T>C
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