Canonical Allele Identifier: CA367015249
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156422A>G (hg19) chr7:g.19116799A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116799A>G , CM000669.2:g.19116799A>G GRCh38
NC_000007.13:g.19156422A>G , CM000669.1:g.19156422A>G GRCh37
NC_000007.12:g.19122947A>G NCBI36
NG_008114.1:g.5874T>C
NG_008114.2:g.5874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.523T>C MANE Select ENSP00000242261.5:p.Cys175Arg
ENST00000242261.5:c.523T>C ENSP00000242261.5:p.Cys175Arg
ENST00000354571.5:c.320T>C
ENST00000443687.5:c.126T>C
NM_000474.3:c.523T>C NP_000465.1:p.Cys175Arg
XM_011515496.1:c.523T>C XP_011513798.1:p.Cys175Arg
NR_149001.1:n.874T>C
NM_000474.4:c.523T>C MANE Select NP_000465.1:p.Cys175Arg
NR_149001.2:n.838T>C
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