Canonical Allele Identifier: CA403087018

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529183-C-T
• MyVariant Identifiers: chr19:g.7594069C>T (hg19) ; chr19:g.7529183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529183C>T , CM000681.2:g.7529183C>T	GRCh38
NC_000019.9:g.7594069C>T , CM000681.1:g.7594069C>T	GRCh37
NC_000019.8:g.7500069C>T	NCBI36
NG_013374.1:g.32C>T
NG_015806.1:g.11574C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1217C>T MANE Select	ENSP00000264079.5:p.Thr406Ile
ENST00000264079.10:c.1217C>T	ENSP00000264079.5:p.Thr406Ile
ENST00000394321.9:n.1532C>T
ENST00000594692.1:n.213C>T
ENST00000595860.5:n.400C>T
ENST00000599334.1:c.94C>T
NM_020533.2:c.1217C>T	NP_065394.1:p.Thr406Ile
NM_020533.3:c.1217C>T MANE Select	NP_065394.1:p.Thr406Ile