Canonical Allele Identifier: CA367015188
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156394C>T (hg19) chr7:g.19116771C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116771C>T , CM000669.2:g.19116771C>T GRCh38
NC_000007.13:g.19156394C>T , CM000669.1:g.19156394C>T GRCh37
NC_000007.12:g.19122919C>T NCBI36
NG_008114.1:g.5902G>A
NG_008114.2:g.5902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.551G>A MANE Select ENSP00000242261.5:p.Ser184Asn
ENST00000242261.5:c.551G>A ENSP00000242261.5:p.Ser184Asn
ENST00000354571.5:c.348G>A
ENST00000443687.5:c.154G>A
NM_000474.3:c.551G>A NP_000465.1:p.Ser184Asn
XM_011515496.1:c.551G>A XP_011513798.1:p.Ser184Asn
NR_149001.1:n.902G>A
NM_000474.4:c.551G>A MANE Select NP_000465.1:p.Ser184Asn
NR_149001.2:n.866G>A
Search 100 bp 5'
Search 100 bp 3'