×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1188121088
Gene: SYPL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.109480819T= , CM000663.2:g.109480819T=
GRCh38
NC_000001.10:g.110023441T= , CM000663.1:g.110023441T=
GRCh37
NC_000001.9:g.109824964T=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000369872.4:c.*1271T=
MANE Select
ENSP00000358888.3:n.*1271T=
ENST00000369872.3:c.*1271T=
ENSP00000358888.3:n.*1271T=
NM_001040709.1:c.*1271T=
NP_001035799.1:n.*1271T=
XM_011541285.1:c.*1271T=
XP_011539587.1:n.*1271T=
NM_001040709.2:c.*1271T=
MANE Select
NP_001035799.1:n.*1271T=
Search 100 bp 5'
Search 100 bp 3'