Canonical Allele Identifier: CA333293

Gene: CLP1

Linked Data

• ClinVar Variation Id: 143934
• ClinVar RCV Id: RCV000133463 ; RCV000658593
• dbSNP Id: rs587777616
• ExAC: 11:57427367 G / A
• gnomAD v2: 11-57427367-G-A
• gnomAD v4: 11-57659895-G-A
• MyVariant Identifiers: chr11:g.57427367G>A (hg19) ; chr11:g.57659895G>A (hg38)
• PubMed: PMID:24766809 ; PMID:24766810

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