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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
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Canonical Allele Identifier:
CA118128
Gene: CILP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6312
ClinVar RCV Id:
RCV000006692
RCV003974801
dbSNP Id:
rs2073711
ExAC:
15:65494212 A / G
gnomAD v2:
15-65494212-A-G
gnomAD v3:
15-65201874-A-G
gnomAD v4:
15-65201874-A-G
MyVariant Identifiers:
chr15:g.65494212A>G (hg19)
chr15:g.65201874A>G (hg38)
PubMed:
PMID:15864306
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.65201874A>G , CM000677.2:g.65201874A>G
GRCh38
NC_000015.9:g.65494212A>G , CM000677.1:g.65494212A>G
GRCh37
NC_000015.8:g.63281265A>G
NCBI36
NG_012214.1:g.14629T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000261883.6:c.1184T>C
MANE Select
ENSP00000261883.4:p.Ile395Thr
ENST00000261883.5:c.1184T>C
ENSP00000261883.4:p.Ile395Thr
NM_003613.3:c.1184T>C
NP_003604.3:p.Ile395Thr
XM_017022678.2:c.1265T>C
XP_016878167.1:p.Ile422Thr
XM_017022679.1:c.1112T>C
XP_016878168.1:p.Ile371Thr
NM_003613.4:c.1184T>C
MANE Select
NP_003604.4:p.Ile395Thr
Search 100 bp 5'
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