Canonical Allele Identifier: CA9138917

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 283177
• ClinVar RCV Id: RCV000310578 ; RCV000327699 ; RCV000675737
• dbSNP Id: rs73003348
• ExAC: 19:7593048 C / T
• gnomAD v2: 19-7593048-C-T
• gnomAD v3: 19-7528162-C-T
• gnomAD v4: 19-7528162-C-T
• MyVariant Identifiers: chr19:g.7593048C>T (hg19) ; chr19:g.7528162C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528162C>T , CM000681.2:g.7528162C>T	GRCh38
NC_000019.9:g.7593048C>T , CM000681.1:g.7593048C>T	GRCh37
NC_000019.8:g.7499048C>T	NCBI36
NG_015806.1:g.10553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.782C>T MANE Select	ENSP00000264079.5:p.Thr261Met
ENST00000264079.10:c.782C>T	ENSP00000264079.5:p.Thr261Met
ENST00000394321.9:n.1097C>T
NM_020533.2:c.782C>T	NP_065394.1:p.Thr261Met
NM_020533.3:c.782C>T MANE Select	NP_065394.1:p.Thr261Met