Canonical Allele Identifier: CA403092098

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598668T>A (hg19) ; chr19:g.7533782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533782T>A , CM000681.2:g.7533782T>A	GRCh38
NC_000019.9:g.7598668T>A , CM000681.1:g.7598668T>A	GRCh37
NC_000019.8:g.7504668T>A	NCBI36
NG_013374.1:g.4631T>A
NG_015806.1:g.16173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1730T>A MANE Select	ENSP00000264079.5:p.Leu577Gln
ENST00000264079.10:c.1730T>A	ENSP00000264079.5:p.Leu577Gln
ENST00000394321.9:n.2045T>A
ENST00000599334.1:c.458T>A
ENST00000601870.1:c.83T>A
ENST00000602227.1:n.284T>A
NM_020533.2:c.1730T>A	NP_065394.1:p.Leu577Gln
NM_020533.3:c.1730T>A MANE Select	NP_065394.1:p.Leu577Gln