Canonical Allele Identifier: CA403089180
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7595202C>G (hg19) chr19:g.7530316C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530316C>G , CM000681.2:g.7530316C>G GRCh38
NC_000019.9:g.7595202C>G , CM000681.1:g.7595202C>G GRCh37
NC_000019.8:g.7501202C>G NCBI36
NG_013374.1:g.1165C>G
NG_015806.1:g.12707C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1390C>G MANE Select ENSP00000264079.5:p.Leu464Val
ENST00000264079.10:c.1390C>G ENSP00000264079.5:p.Leu464Val
ENST00000394321.9:n.1705C>G
ENST00000594692.1:n.386C>G
ENST00000595860.5:n.573C>G
ENST00000599334.1:c.237-119C>G
NM_020533.2:c.1390C>G NP_065394.1:p.Leu464Val
NM_020533.3:c.1390C>G MANE Select NP_065394.1:p.Leu464Val
Search 100 bp 5'
Search 100 bp 3'