Canonical Allele Identifier: CA403080814
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591403C>G (hg19) chr19:g.7526517C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526517C>G , CM000681.2:g.7526517C>G GRCh38
NC_000019.9:g.7591403C>G , CM000681.1:g.7591403C>G GRCh37
NC_000019.8:g.7497403C>G NCBI36
NG_015806.1:g.8908C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.316C>G MANE Select ENSP00000264079.5:p.Leu106Val
ENST00000264079.10:c.316C>G ENSP00000264079.5:p.Leu106Val
ENST00000394321.9:n.396C>G
ENST00000596008.1:n.278C>G
ENST00000598406.1:n.137C>G
ENST00000601003.1:c.316C>G ENSP00000469074.1:p.Leu106Val
NM_020533.2:c.316C>G NP_065394.1:p.Leu106Val
NM_020533.3:c.316C>G MANE Select NP_065394.1:p.Leu106Val
Search 100 bp 5'
Search 100 bp 3'