Canonical Allele Identifier: CA403092103

Gene: MCOLN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1730T>G MANE Select	ENSP00000264079.5:p.Leu577Arg
ENST00000264079.10:c.1730T>G	ENSP00000264079.5:p.Leu577Arg
ENST00000394321.9:n.2045T>G
ENST00000599334.1:c.458T>G
ENST00000601870.1:c.83T>G
ENST00000602227.1:n.284T>G
NM_020533.2:c.1730T>G	NP_065394.1:p.Leu577Arg
NM_020533.3:c.1730T>G MANE Select	NP_065394.1:p.Leu577Arg