Canonical Allele Identifier: CA505231883
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7594580G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529694G>C , CM000681.2:g.7529694G>C GRCh38
NC_000019.9:g.7594580G>C , CM000681.1:g.7594580G>C GRCh37
NC_000019.8:g.7500580G>C NCBI36
NG_013374.1:g.543G>C
NG_015806.1:g.12085G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1341G>C MANE Select ENSP00000264079.5:p.Leu447=
ENST00000264079.10:c.1341G>C ENSP00000264079.5:p.Leu447=
ENST00000394321.9:n.1656G>C
ENST00000594692.1:n.337G>C
ENST00000595860.5:n.524G>C
ENST00000599334.1:c.218G>C
NM_020533.2:c.1341G>C NP_065394.1:p.Leu447=
NM_020533.3:c.1341G>C MANE Select NP_065394.1:p.Leu447=
Search 100 bp 5'
Search 100 bp 3'