Canonical Allele Identifier: CA9139255

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 991189
• ClinVar RCV Id: RCV001279360
• dbSNP Id: rs751699944
• ExAC: 19:7598689 T / C
• gnomAD v2: 19-7598689-T-C
• gnomAD v3: 19-7533803-T-C
• gnomAD v4: 19-7533803-T-C
• MyVariant Identifiers: chr19:g.7598689T>C (hg19) ; chr19:g.7533803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533803T>C , CM000681.2:g.7533803T>C	GRCh38
NC_000019.9:g.7598689T>C , CM000681.1:g.7598689T>C	GRCh37
NC_000019.8:g.7504689T>C	NCBI36
NG_013374.1:g.4652T>C
NG_015806.1:g.16194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*8T>C MANE Select	ENSP00000264079.5:n.*8T>C
ENST00000264079.10:c.*8T>C	ENSP00000264079.5:n.*8T>C
ENST00000394321.9:n.2066T>C
ENST00000599334.1:c.479T>C
ENST00000601870.1:c.104T>C
ENST00000602227.1:n.305T>C
NM_020533.2:c.*8T>C	NP_065394.1:n.*8T>C
NM_020533.3:c.*8T>C MANE Select	NP_065394.1:n.*8T>C