Canonical Allele Identifier: CA1692249729
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116441G= , CM000669.2:g.19116441G= GRCh38
NC_000007.13:g.19156064G= , CM000669.1:g.19156064G= GRCh37
NC_000007.12:g.19122589G= NCBI36
NG_008114.1:g.6232C=
NG_008114.2:g.6232C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*42+230C= MANE Select ENSP00000242261.5:n.*42+230C=
ENST00000242261.5:c.*42+230C= ENSP00000242261.5:n.*42+230C=
ENST00000354571.5:c.448+230C=
ENST00000443687.5:c.254+230C=
NM_000474.3:c.*42+230C= NP_000465.1:n.*42+230C=
XM_011515496.1:c.*42+230C= XP_011513798.1:n.*42+230C=
NR_149001.1:n.1002+230C=
NM_000474.4:c.*42+230C= MANE Select NP_000465.1:n.*42+230C=
NR_149001.2:n.966+230C=
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