Canonical Allele Identifier: CA884200908

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1490536347
• gnomAD v3: 19-7527512-G-GTC
• gnomAD v4: 19-7527512-G-GTC
• MyVariant Identifiers: chr19:g.7592398_7592399insTC (hg19) ; chr19:g.7527512_7527513insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527513_7527514dup , CM000681.2:g.7527513_7527514dup	GRCh38
NC_000019.9:g.7592399_7592400dup , CM000681.1:g.7592399_7592400dup	GRCh37
NC_000019.8:g.7498399_7498400dup	NCBI36
NG_015806.1:g.9904_9905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-7_572-6dup MANE Select	ENSP00000264079.5:n.572-7_572-6dup
ENST00000264079.10:c.572-7_572-6dup	ENSP00000264079.5:n.572-7_572-6dup
ENST00000394321.9:n.652-7_652-6dup
ENST00000598406.1:n.393-7_393-6dup
ENST00000601003.1:c.572-351_572-350dup	ENSP00000469074.1:n.572-351_572-350dup
NM_020533.2:c.572-7_572-6dup	NP_065394.1:n.572-7_572-6dup
NM_020533.3:c.572-7_572-6dup MANE Select	NP_065394.1:n.572-7_572-6dup