Canonical Allele Identifier: CA2320962111

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022582232

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527059_7527082dup , CM000681.2:g.7527059_7527082dup	GRCh38
NC_000019.9:g.7591945_7591968dup , CM000681.1:g.7591945_7591968dup	GRCh37
NC_000019.8:g.7497945_7497968dup	NCBI36
NG_015806.1:g.9450_9473dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+133_571+156dup MANE Select	ENSP00000264079.5:n.571+133_571+156dup
ENST00000264079.10:c.571+133_571+156dup	ENSP00000264079.5:n.571+133_571+156dup
ENST00000394321.9:n.651+133_651+156dup
ENST00000596008.1:n.666_689dup
ENST00000598406.1:n.392+133_392+156dup
ENST00000601003.1:c.571+133_571+156dup	ENSP00000469074.1:n.571+133_571+156dup
NM_020533.2:c.571+133_571+156dup	NP_065394.1:n.571+133_571+156dup
NM_020533.3:c.571+133_571+156dup MANE Select	NP_065394.1:n.571+133_571+156dup