Canonical Allele Identifier: CA403089160
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7595201C>G (hg19) chr19:g.7530315C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530315C>G , CM000681.2:g.7530315C>G GRCh38
NC_000019.9:g.7595201C>G , CM000681.1:g.7595201C>G GRCh37
NC_000019.8:g.7501201C>G NCBI36
NG_013374.1:g.1164C>G
NG_015806.1:g.12706C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1389C>G MANE Select ENSP00000264079.5:p.Cys463Trp
ENST00000264079.10:c.1389C>G ENSP00000264079.5:p.Cys463Trp
ENST00000394321.9:n.1704C>G
ENST00000594692.1:n.385C>G
ENST00000595860.5:n.572C>G
ENST00000599334.1:c.237-120C>G
NM_020533.2:c.1389C>G NP_065394.1:p.Cys463Trp
NM_020533.3:c.1389C>G MANE Select NP_065394.1:p.Cys463Trp
Search 100 bp 5'
Search 100 bp 3'