Canonical Allele Identifier: CA333293
Gene: CLP1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.57659895G>A
GRCh37 chr11:g.57427367G>A
Revel Score:
ENST00000529430 0.788
ENST00000533682 (MANE Select) 0.788
ENST00000525602 0.788
gnomAD v2:
11:57427367 G / A
gnomAD v4:
chr11-57659895-G-A
Joint Max Group AF 0.0000122 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
ClinVar Allele:
153655
ClinVar RCV:
RCV000133463
RCV000658593
ClinVar Variation:
143934
dbSNP:
587777616
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57659895G>A , CM000673.2:g.57659895G>A GRCh38
NC_000011.9:g.57427367G>A , CM000673.1:g.57427367G>A GRCh37
NC_000011.8:g.57183943G>A NCBI36
NG_034248.1:g.7152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529773.2:c.419G>A ENSP00000435287.2:p.Arg140His
ENST00000533682.2:c.419G>A MANE Select ENSP00000434995.1:p.Arg140His
ENST00000681650.1:c.419G>A ENSP00000506714.1:p.Arg140His
ENST00000302731.4:c.414+5G>A ENSP00000304704.4:n.414+5G>A
ENST00000525602.1:c.419G>A ENSP00000436066.1:p.Arg140His
ENST00000529430.1:c.452G>A ENSP00000433406.1:p.Arg151His
ENST00000533682.1:c.419G>A ENSP00000434995.1:p.Arg140His
NM_001142597.1:c.414+5G>A NP_001136069.1:n.414+5G>A
NM_006831.2:c.419G>A NP_006822.1:p.Arg140His
NM_006831.3:c.419G>A MANE Select NP_006822.1:p.Arg140His
NM_001142597.2:c.414+5G>A NP_001136069.1:n.414+5G>A
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