Canonical Allele Identifier: CA505230390

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527557-GC-G
• COSMIC: COSM1397563
• MyVariant Identifiers: chr19:g.7592444del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527563del , CM000681.2:g.7527563del	GRCh38
NC_000019.9:g.7592449del , CM000681.1:g.7592449del	GRCh37
NC_000019.8:g.7498449del	NCBI36
NG_015806.1:g.9954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.615del MANE Select	ENSP00000264079.5:p.Ser206AlafsTer?
ENST00000264079.10:c.615del	ENSP00000264079.5:p.Ser206AlafsTer?
ENST00000394321.9:n.695del
ENST00000598406.1:n.436del
ENST00000601003.1:c.572-301del	ENSP00000469074.1:n.572-301del
NM_020533.2:c.615del	NP_065394.1:p.Ser206AlafsTer?
NM_020533.3:c.615del MANE Select	NP_065394.1:p.Ser206AlafsTer?