Canonical Allele Identifier: CA271504437
Gene: CILP HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.65196948A>G
GRCh37 chr15:g.65489286A>G
Revel Score:
ENST00000261883 (MANE Select) 0.314
gnomAD v3:
15:65196948 A / G
gnomAD v4:
chr15-65196948-A-G
Joint Max Group AF 0.00000689 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV001355618
ClinVar Variation:
1049471
dbSNP:
779758505
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65196948A>G , CM000677.2:g.65196948A>G GRCh38
NC_000015.9:g.65489286A>G , CM000677.1:g.65489286A>G GRCh37
NC_000015.8:g.63276339A>G NCBI36
NG_012214.1:g.19555T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261883.6:c.3338T>C MANE Select ENSP00000261883.4:p.Val1113Ala
ENST00000261883.5:c.3338T>C ENSP00000261883.4:p.Val1113Ala
NM_003613.3:c.3338T>C NP_003604.3:p.Val1113Ala
XM_017022678.2:c.3419T>C XP_016878167.1:p.Val1140Ala
XM_017022679.1:c.3266T>C XP_016878168.1:p.Val1089Ala
NM_003613.4:c.3338T>C MANE Select NP_003604.4:p.Val1113Ala
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