Canonical Allele Identifier: CA993153901

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022585180
• gnomAD v3: 19-7527267-GTC-G
• gnomAD v4: 19-7527267-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527270_7527271del , CM000681.2:g.7527270_7527271del	GRCh38
NC_000019.9:g.7592156_7592157del , CM000681.1:g.7592156_7592157del	GRCh37
NC_000019.8:g.7498156_7498157del	NCBI36
NG_015806.1:g.9661_9662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-250_572-249del MANE Select	ENSP00000264079.5:n.572-250_572-249del
ENST00000264079.10:c.572-250_572-249del	ENSP00000264079.5:n.572-250_572-249del
ENST00000394321.9:n.652-250_652-249del
ENST00000598406.1:n.393-250_393-249del
ENST00000601003.1:c.571+344_571+345del	ENSP00000469074.1:n.571+344_571+345del
NM_020533.2:c.572-250_572-249del	NP_065394.1:n.572-250_572-249del
NM_020533.3:c.572-250_572-249del MANE Select	NP_065394.1:n.572-250_572-249del