Canonical Allele Identifier: CA7615447
Gene: CILP HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.65198563T>C
GRCh37 chr15:g.65490901T>C
Revel Score:
ENST00000261883 (MANE Select) 0.052
gnomAD v2:
15:65490901 T / C
gnomAD v3:
15:65198563 T / C
gnomAD v4:
chr15-65198563-T-C
Joint Max Group AF 0.99843542 (NFE)
Genomes Max Group AF 0.99355613 (NFE)
Exomes Max Group AF 0.99839543 (NFE)
dbSNP:
2679118
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65198563T>C , CM000677.2:g.65198563T>C GRCh38
NC_000015.9:g.65490901T>C , CM000677.1:g.65490901T>C GRCh37
NC_000015.8:g.63277954T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261883.6:c.1723A>G MANE Select ENSP00000261883.4:p.Lys575Glu
ENST00000261883.5:c.1723A>G ENSP00000261883.4:p.Lys575Glu
XM_017022678.2:c.1804A>G XP_016878167.1:p.Lys602Glu
XM_017022679.1:c.1651A>G XP_016878168.1:p.Lys551Glu
NM_003613.4:c.1723A>G MANE Select NP_003604.4:p.Lys575Glu
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