Canonical Allele Identifier: CA2320965548
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533786G= , CM000681.2:g.7533786G= GRCh38
NC_000019.9:g.7598672G= , CM000681.1:g.7598672G= GRCh37
NC_000019.8:g.7504672G= NCBI36
NG_013374.1:g.4635G=
NG_015806.1:g.16177G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1734G= MANE Select ENSP00000264079.5:p.Leu578=
ENST00000264079.10:c.1734G= ENSP00000264079.5:p.Leu578=
ENST00000394321.9:n.2049G=
ENST00000599334.1:c.462G=
ENST00000601870.1:c.87G=
ENST00000602227.1:n.288G=
NM_020533.2:c.1734G= NP_065394.1:p.Leu578=
NM_020533.3:c.1734G= MANE Select NP_065394.1:p.Leu578=