Canonical Allele Identifier: CA403081567

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7591767G>T (hg19) ; chr19:g.7526881G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526881G>T , CM000681.2:g.7526881G>T	GRCh38
NC_000019.9:g.7591767G>T , CM000681.1:g.7591767G>T	GRCh37
NC_000019.8:g.7497767G>T	NCBI36
NG_015806.1:g.9272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.526G>T MANE Select	ENSP00000264079.5:p.Asp176Tyr
ENST00000264079.10:c.526G>T	ENSP00000264079.5:p.Asp176Tyr
ENST00000394321.9:n.606G>T
ENST00000596008.1:n.488G>T
ENST00000598406.1:n.347G>T
ENST00000601003.1:c.526G>T	ENSP00000469074.1:p.Asp176Tyr
NM_020533.2:c.526G>T	NP_065394.1:p.Asp176Tyr
NM_020533.3:c.526G>T MANE Select	NP_065394.1:p.Asp176Tyr