Canonical Allele Identifier: CA505231738

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022625481
• gnomAD v4: 19-7529610-G-C
• MyVariant Identifiers: chr19:g.7594496G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529610G>C , CM000681.2:g.7529610G>C	GRCh38
NC_000019.9:g.7594496G>C , CM000681.1:g.7594496G>C	GRCh37
NC_000019.8:g.7500496G>C	NCBI36
NG_013374.1:g.459G>C
NG_015806.1:g.12001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1257G>C MANE Select	ENSP00000264079.5:p.Arg419=
ENST00000264079.10:c.1257G>C	ENSP00000264079.5:p.Arg419=
ENST00000394321.9:n.1572G>C
ENST00000594692.1:n.253G>C
ENST00000595860.5:n.440G>C
ENST00000599334.1:c.134G>C
NM_020533.2:c.1257G>C	NP_065394.1:p.Arg419=
NM_020533.3:c.1257G>C MANE Select	NP_065394.1:p.Arg419=