Canonical Allele Identifier: CA658824395
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 553196
ClinVar RCV Id: RCV000668592
dbSNP Id: rs1555742837
MyVariant Identifiers: chr19:g.7533787del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533787del , CM000681.2:g.7533787del GRCh38
NC_000019.9:g.7598673del , CM000681.1:g.7598673del GRCh37
NC_000019.8:g.7504673del NCBI36
NG_013374.1:g.4636del
NG_015806.1:g.16178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1735del MANE Select ENSP00000264079.5:p.Val579Ter
ENST00000264079.10:c.1735del ENSP00000264079.5:p.Val579Ter
ENST00000394321.9:n.2050del
ENST00000599334.1:c.463del
ENST00000601870.1:c.88del
ENST00000602227.1:n.289del
NM_020533.2:c.1735del NP_065394.1:p.Val579Ter
NM_020533.3:c.1735del MANE Select NP_065394.1:p.Val579Ter
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