Canonical Allele Identifier: CA403082440
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527615-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527615C>G , CM000681.2:g.7527615C>G GRCh38
NC_000019.9:g.7592501C>G , CM000681.1:g.7592501C>G GRCh37
NC_000019.8:g.7498501C>G NCBI36
NG_015806.1:g.10006C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.667C>G MANE Select ENSP00000264079.5:p.Leu223Val
ENST00000264079.10:c.667C>G ENSP00000264079.5:p.Leu223Val
ENST00000394321.9:n.747C>G
ENST00000598406.1:n.488C>G
ENST00000601003.1:c.572-249C>G ENSP00000469074.1:n.572-249C>G
NM_020533.2:c.667C>G NP_065394.1:p.Leu223Val
NM_020533.3:c.667C>G MANE Select NP_065394.1:p.Leu223Val