Canonical Allele Identifier: CA2320961814
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526517C= , CM000681.2:g.7526517C= GRCh38
NC_000019.9:g.7591403C= , CM000681.1:g.7591403C= GRCh37
NC_000019.8:g.7497403C= NCBI36
NG_015806.1:g.8908C=

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.316C= MANE Select ENSP00000264079.5:p.Leu106=
ENST00000264079.10:c.316C= ENSP00000264079.5:p.Leu106=
ENST00000394321.9:n.396C=
ENST00000596008.1:n.278C=
ENST00000598406.1:n.137C=
ENST00000601003.1:c.316C= ENSP00000469074.1:p.Leu106=
NM_020533.2:c.316C= NP_065394.1:p.Leu106=
NM_020533.3:c.316C= MANE Select NP_065394.1:p.Leu106=