Canonical Allele Identifier: CA347434
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208039
ClinVar RCV Id: RCV000194725 RCV004020300
dbSNP Id: rs755042147
ExAC: 19:7593524 CT / C
gnomAD v2: 19-7593524-CT-C
gnomAD v3: 19-7528638-CT-C
gnomAD v4: 19-7528638-CT-C
MyVariant Identifiers: chr19:g.7593525del (hg19) chr19:g.7528639del (hg38)
PubMed: PMID:20301393
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528639del , CM000681.2:g.7528639del GRCh38
NC_000019.9:g.7593525del , CM000681.1:g.7593525del GRCh37
NC_000019.8:g.7499525del NCBI36
NG_015806.1:g.11030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.920del MANE Select ENSP00000264079.5:p.Leu307ProfsTer?
ENST00000264079.10:c.920del ENSP00000264079.5:p.Leu307ProfsTer?
ENST00000394321.9:n.1235del
NM_020533.2:c.920del NP_065394.1:p.Leu307ProfsTer?
NM_020533.3:c.920del MANE Select NP_065394.1:p.Leu307ProfsTer?
Search 100 bp 5'
Search 100 bp 3'