Canonical Allele Identifier: CA7615075
Gene: CILP HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.65196790C>T
GRCh37 chr15:g.65489128C>T
Revel Score:
ENST00000261883 (MANE Select) 0.040
gnomAD v2:
15:65489128 C / T
gnomAD v3:
15:65196790 C / T
gnomAD v4:
chr15-65196790-C-T
Joint Max Group AF 0.99066432 (EAS)
Genomes Max Group AF 0.97361783 (EAS)
Exomes Max Group AF 0.99044575 (EAS)
ClinVar RCV:
RCV003982328
ClinVar Variation:
3060299
dbSNP:
938952
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65196790C>T , CM000677.2:g.65196790C>T GRCh38
NC_000015.9:g.65489128C>T , CM000677.1:g.65489128C>T GRCh37
NC_000015.8:g.63276181C>T NCBI36
NG_012214.1:g.19713G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261883.6:c.3496G>A MANE Select ENSP00000261883.4:p.Gly1166Ser
ENST00000261883.5:c.3496G>A ENSP00000261883.4:p.Gly1166Ser
NM_003613.3:c.3496G>A NP_003604.3:p.Gly1166Ser
XM_017022678.2:c.3577G>A XP_016878167.1:p.Gly1193Ser
XM_017022679.1:c.3424G>A XP_016878168.1:p.Gly1142Ser
NM_003613.4:c.3496G>A MANE Select NP_003604.4:p.Gly1166Ser
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