Canonical Allele Identifier: CA16041987
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370580
ClinVar RCV Id: RCV000410945
dbSNP Id: rs1057516602

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524983dup , CM000681.2:g.7524983dup GRCh38
NC_000019.9:g.7589869dup , CM000681.1:g.7589869dup GRCh37
NC_000019.8:g.7495869dup NCBI36
NG_015806.1:g.7374dup

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.54dup VV NP_065394.1:p.Asn19GlnfsTer?
NM_020533.3:c.54dup VV MANE Preferred NP_065394.1:p.Asn19GlnfsTer?
ENST00000264079.10:c.54dup ENSP00000264079.5:p.Asn19GlnfsTer?
ENST00000394321.9:n.134dup
ENST00000596390.1:n.170dup
ENST00000601003.1:c.54dup ENSP00000469074.1:p.Asn19GlnfsTer?