Canonical Allele Identifier: CA2587948175

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527273-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527273_7527274insC , CM000681.2:g.7527273_7527274insC	GRCh38
NC_000019.9:g.7592159_7592160insC , CM000681.1:g.7592159_7592160insC	GRCh37
NC_000019.8:g.7498159_7498160insC	NCBI36
NG_015806.1:g.9664_9665insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-247_572-246insC MANE Select	ENSP00000264079.5:n.572-247_572-246insC
ENST00000264079.10:c.572-247_572-246insC	ENSP00000264079.5:n.572-247_572-246insC
ENST00000394321.9:n.652-247_652-246insC
ENST00000598406.1:n.393-247_393-246insC
ENST00000601003.1:c.571+347_571+348insC	ENSP00000469074.1:n.571+347_571+348insC
NM_020533.2:c.572-247_572-246insC	NP_065394.1:n.572-247_572-246insC
NM_020533.3:c.572-247_572-246insC MANE Select	NP_065394.1:n.572-247_572-246insC