Canonical Allele Identifier: CA367015419
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 835124
ClinVar RCV Id: RCV001035938
dbSNP Id: rs1788579980
MyVariant Identifiers: chr7:g.19156499A>C (hg19) chr7:g.19116876A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116876A>C , CM000669.2:g.19116876A>C GRCh38
NC_000007.13:g.19156499A>C , CM000669.1:g.19156499A>C GRCh37
NC_000007.12:g.19123024A>C NCBI36
NG_008114.1:g.5797T>G
NG_008114.2:g.5797T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.446T>G MANE Select ENSP00000242261.5:p.Leu149Arg
ENST00000242261.5:c.446T>G ENSP00000242261.5:p.Leu149Arg
ENST00000354571.5:c.243T>G
ENST00000443687.5:c.49T>G
NM_000474.3:c.446T>G NP_000465.1:p.Leu149Arg
XM_011515496.1:c.446T>G XP_011513798.1:p.Leu149Arg
NR_149001.1:n.797T>G
NM_000474.4:c.446T>G MANE Select NP_000465.1:p.Leu149Arg
NR_149001.2:n.761T>G
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