Canonical Allele Identifier: CA403087263

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529596-A-C
• MyVariant Identifiers: chr19:g.7594482A>C (hg19) ; chr19:g.7529596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529596A>C , CM000681.2:g.7529596A>C	GRCh38
NC_000019.9:g.7594482A>C , CM000681.1:g.7594482A>C	GRCh37
NC_000019.8:g.7500482A>C	NCBI36
NG_013374.1:g.445A>C
NG_015806.1:g.11987A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1243A>C MANE Select	ENSP00000264079.5:p.Ile415Leu
ENST00000264079.10:c.1243A>C	ENSP00000264079.5:p.Ile415Leu
ENST00000394321.9:n.1558A>C
ENST00000594692.1:n.239A>C
ENST00000595860.5:n.426A>C
ENST00000599334.1:c.120A>C
NM_020533.2:c.1243A>C	NP_065394.1:p.Ile415Leu
NM_020533.3:c.1243A>C MANE Select	NP_065394.1:p.Ile415Leu