Canonical Allele Identifier: CA9139132

Gene: MCOLN1

Linked Data

• dbSNP Id: rs770703517
• ExAC: 19:7595128 T / C
• gnomAD v2: 19-7595128-T-C
• gnomAD v4: 19-7530242-T-C
• MyVariant Identifiers: chr19:g.7595128T>C (hg19) ; chr19:g.7530242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530242T>C , CM000681.2:g.7530242T>C	GRCh38
NC_000019.9:g.7595128T>C , CM000681.1:g.7595128T>C	GRCh37
NC_000019.8:g.7501128T>C	NCBI36
NG_013374.1:g.1091T>C
NG_015806.1:g.12633T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1360-44T>C MANE Select	ENSP00000264079.5:n.1360-44T>C
ENST00000264079.10:c.1360-44T>C	ENSP00000264079.5:n.1360-44T>C
ENST00000394321.9:n.1675-44T>C
ENST00000594692.1:n.356-44T>C
ENST00000595860.5:n.543-44T>C
ENST00000599334.1:c.237-193T>C
NM_020533.2:c.1360-44T>C	NP_065394.1:n.1360-44T>C
NM_020533.3:c.1360-44T>C MANE Select	NP_065394.1:n.1360-44T>C