Canonical Allele Identifier: CA347431
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs797044825
gnomAD v4: 19-7526518-T-C
MyVariant Identifiers: chr19:g.7591404T>C (hg19) chr19:g.7526518T>C (hg38)
PubMed: PMID:20301393
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526518T>C , CM000681.2:g.7526518T>C GRCh38
NC_000019.9:g.7591404T>C , CM000681.1:g.7591404T>C GRCh37
NC_000019.8:g.7497404T>C NCBI36
NG_015806.1:g.8909T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.317T>C MANE Select ENSP00000264079.5:p.Leu106Pro
ENST00000264079.10:c.317T>C ENSP00000264079.5:p.Leu106Pro
ENST00000394321.9:n.397T>C
ENST00000596008.1:n.279T>C
ENST00000598406.1:n.138T>C
ENST00000601003.1:c.317T>C ENSP00000469074.1:p.Leu106Pro
NM_020533.2:c.317T>C NP_065394.1:p.Leu106Pro
NM_020533.3:c.317T>C MANE Select NP_065394.1:p.Leu106Pro
Search 100 bp 5'
Search 100 bp 3'