Canonical Allele Identifier: CA2320963682

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022634010

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530109_7530110insG , CM000681.2:g.7530109_7530110insG	GRCh38
NC_000019.9:g.7594995_7594996insG , CM000681.1:g.7594995_7594996insG	GRCh37
NC_000019.8:g.7500995_7500996insG	NCBI36
NG_013374.1:g.958_959insG
NG_015806.1:g.12500_12501insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-177_1360-176insG MANE Select	ENSP00000264079.5:n.1360-177_1360-176insG
ENST00000264079.10:c.1360-177_1360-176insG	ENSP00000264079.5:n.1360-177_1360-176insG
ENST00000394321.9:n.1675-177_1675-176insG
ENST00000594692.1:n.356-177_356-176insG
ENST00000595860.5:n.543-177_543-176insG
ENST00000599334.1:c.237-326_237-325insG
NM_020533.2:c.1360-177_1360-176insG	NP_065394.1:n.1360-177_1360-176insG
NM_020533.3:c.1360-177_1360-176insG MANE Select	NP_065394.1:n.1360-177_1360-176insG