Canonical Allele Identifier: CA454143492
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156489C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116866C>G , CM000669.2:g.19116866C>G GRCh38
NC_000007.13:g.19156489C>G , CM000669.1:g.19156489C>G GRCh37
NC_000007.12:g.19123014C>G NCBI36
NG_008114.1:g.5807G>C
NG_008114.2:g.5807G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.456G>C MANE Select ENSP00000242261.5:p.Ala152=
ENST00000242261.5:c.456G>C ENSP00000242261.5:p.Ala152=
ENST00000354571.5:c.253G>C
ENST00000443687.5:c.59G>C
NM_000474.3:c.456G>C NP_000465.1:p.Ala152=
XM_011515496.1:c.456G>C XP_011513798.1:p.Ala152=
NR_149001.1:n.807G>C
NM_000474.4:c.456G>C MANE Select NP_000465.1:p.Ala152=
NR_149001.2:n.771G>C