Canonical Allele Identifier: CA884200865

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1423600026
• gnomAD v3: 19-7527455-ACT-A
• gnomAD v4: 19-7527455-ACT-A
• MyVariant Identifiers: chr19:g.7592342_7592343del (hg19) ; chr19:g.7527456_7527457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527458_7527459del , CM000681.2:g.7527458_7527459del	GRCh38
NC_000019.9:g.7592344_7592345del , CM000681.1:g.7592344_7592345del	GRCh37
NC_000019.8:g.7498344_7498345del	NCBI36
NG_015806.1:g.9849_9850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-62_572-61del MANE Select	ENSP00000264079.5:n.572-62_572-61del
ENST00000264079.10:c.572-62_572-61del	ENSP00000264079.5:n.572-62_572-61del
ENST00000394321.9:n.652-62_652-61del
ENST00000598406.1:n.393-62_393-61del
ENST00000601003.1:c.572-406_572-405del	ENSP00000469074.1:n.572-406_572-405del
NM_020533.2:c.572-62_572-61del	NP_065394.1:n.572-62_572-61del
NM_020533.3:c.572-62_572-61del MANE Select	NP_065394.1:n.572-62_572-61del