Canonical Allele Identifier: CA347341

Gene: MCOLN1

Identifiers and link-outs to other resources

• ClinVar Variation Id: 208025
• ClinVar RCV Id: RCV000192304
• dbSNP Id: rs797044819 ; rs797044831
• MyVariant Identifiers: chr19:g.7598448del (hg19) ; chr19:g.7598447del (hg19) ; chr19:g.7533562del (hg38) ; chr19:g.7533561del (hg38)
• PubMed: PMID:18326692 ; PMID:20301393

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533562del , CM000681.2:g.7533562del	GRCh38
NC_000019.9:g.7598448del , CM000681.1:g.7598448del	GRCh37
NC_000019.8:g.7504448del	NCBI36
NG_013374.1:g.4411del
NG_015806.1:g.15953del

Transcript Alleles

HGVS	Amino-acid change
NM_020533.2:c.1615del VV	NP_065394.1:p.Ala539ProfsTer?
NM_020533.3:c.1615del VV MANE Preferred	NP_065394.1:p.Ala539ProfsTer?
ENST00000264079.10:c.1615del	ENSP00000264079.5:p.Ala539ProfsTer?
ENST00000394321.9:n.1930del
ENST00000599334.1:n.343del
ENST00000602227.1:n.169del