Canonical Allele Identifier: CA884200729

Gene: MCOLN1

Linked Data

• dbSNP Id: rs562144613
• gnomAD v3: 19-7527271-CAAAA-C
• gnomAD v4: 19-7527271-CAAAA-C
• MyVariant Identifiers: chr19:g.7592158_7592161del (hg19) ; chr19:g.7527272_7527275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527292_7527295del , CM000681.2:g.7527292_7527295del	GRCh38
NC_000019.9:g.7592178_7592181del , CM000681.1:g.7592178_7592181del	GRCh37
NC_000019.8:g.7498178_7498181del	NCBI36
NG_015806.1:g.9683_9686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-228_572-225del MANE Select	ENSP00000264079.5:n.572-228_572-225del
ENST00000264079.10:c.572-228_572-225del	ENSP00000264079.5:n.572-228_572-225del
ENST00000394321.9:n.652-228_652-225del
ENST00000598406.1:n.393-228_393-225del
ENST00000601003.1:c.571+366_571+369del	ENSP00000469074.1:n.571+366_571+369del
NM_020533.2:c.572-228_572-225del	NP_065394.1:n.572-228_572-225del
NM_020533.3:c.572-228_572-225del MANE Select	NP_065394.1:n.572-228_572-225del