Canonical Allele Identifier: CA403092119
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533785T>G , CM000681.2:g.7533785T>G GRCh38
NC_000019.9:g.7598671T>G , CM000681.1:g.7598671T>G GRCh37
NC_000019.8:g.7504671T>G NCBI36
NG_013374.1:g.4634T>G
NG_015806.1:g.16176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1733T>G MANE Select ENSP00000264079.5:p.Leu578Arg
ENST00000264079.10:c.1733T>G ENSP00000264079.5:p.Leu578Arg
ENST00000394321.9:n.2048T>G
ENST00000599334.1:c.461T>G
ENST00000601870.1:c.86T>G
ENST00000602227.1:n.287T>G
NM_020533.2:c.1733T>G NP_065394.1:p.Leu578Arg
NM_020533.3:c.1733T>G MANE Select NP_065394.1:p.Leu578Arg