Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

ClinGen Allele Registry

Canonical Allele Identifier: CA367015381

Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070030

ClinVar RCV Id: RCV002958978

MyVariant Identifiers: chr7:g.19156480G>C (hg19) chr7:g.19116857G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116857G>C , CM000669.2:g.19116857G>C	GRCh38
NC_000007.13:g.19156480G>C , CM000669.1:g.19156480G>C	GRCh37
NC_000007.12:g.19123005G>C	NCBI36
NG_008114.1:g.5816C>G
NG_008114.2:g.5816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.465C>G MANE Select	ENSP00000242261.5:p.Tyr155Ter
ENST00000242261.5:c.465C>G	ENSP00000242261.5:p.Tyr155Ter
ENST00000354571.5:c.262C>G
ENST00000443687.5:c.68C>G
NM_000474.3:c.465C>G	NP_000465.1:p.Tyr155Ter
XM_011515496.1:c.465C>G	XP_011513798.1:p.Tyr155Ter
NR_149001.1:n.816C>G
NM_000474.4:c.465C>G MANE Select	NP_000465.1:p.Tyr155Ter
NR_149001.2:n.780C>G