Canonical Allele Identifier: CA403088083
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7594578C>G (hg19) chr19:g.7529692C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529692C>G , CM000681.2:g.7529692C>G GRCh38
NC_000019.9:g.7594578C>G , CM000681.1:g.7594578C>G GRCh37
NC_000019.8:g.7500578C>G NCBI36
NG_013374.1:g.541C>G
NG_015806.1:g.12083C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1339C>G MANE Select ENSP00000264079.5:p.Leu447Val
ENST00000264079.10:c.1339C>G ENSP00000264079.5:p.Leu447Val
ENST00000394321.9:n.1654C>G
ENST00000594692.1:n.335C>G
ENST00000595860.5:n.522C>G
ENST00000599334.1:c.216C>G
NM_020533.2:c.1339C>G NP_065394.1:p.Leu447Val
NM_020533.3:c.1339C>G MANE Select NP_065394.1:p.Leu447Val
Search 100 bp 5'
Search 100 bp 3'