Canonical Allele Identifier: CA403092107

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598671T>A (hg19) ; chr19:g.7533785T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1733T>A MANE Select	ENSP00000264079.5:p.Leu578Gln
ENST00000264079.10:c.1733T>A	ENSP00000264079.5:p.Leu578Gln
ENST00000394321.9:n.2048T>A
ENST00000599334.1:c.461T>A
ENST00000601870.1:c.86T>A
ENST00000602227.1:n.287T>A
NM_020533.2:c.1733T>A	NP_065394.1:p.Leu578Gln
NM_020533.3:c.1733T>A MANE Select	NP_065394.1:p.Leu578Gln