Canonical Allele Identifier: CA2499225630

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1103254
• ClinVar RCV Id: RCV001426844
• dbSNP Id: rs2146024612

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528711T>C , CM000681.2:g.7528711T>C	GRCh38
NC_000019.9:g.7593597T>C , CM000681.1:g.7593597T>C	GRCh37
NC_000019.8:g.7499597T>C	NCBI36
NG_015806.1:g.11102T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.984+8T>C MANE Select	ENSP00000264079.5:n.984+8T>C
ENST00000264079.10:c.984+8T>C	ENSP00000264079.5:n.984+8T>C
ENST00000394321.9:n.1299+8T>C
ENST00000595860.5:n.58T>C
NM_020533.2:c.984+8T>C	NP_065394.1:n.984+8T>C
NM_020533.3:c.984+8T>C MANE Select	NP_065394.1:n.984+8T>C