Canonical Allele Identifier: CA2320963607

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022631547

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530015del , CM000681.2:g.7530015del	GRCh38
NC_000019.9:g.7594901del , CM000681.1:g.7594901del	GRCh37
NC_000019.8:g.7500901del	NCBI36
NG_013374.1:g.864del
NG_015806.1:g.12406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-271del MANE Select	ENSP00000264079.5:n.1360-271del
ENST00000264079.10:c.1360-271del	ENSP00000264079.5:n.1360-271del
ENST00000394321.9:n.1675-271del
ENST00000594692.1:n.356-271del
ENST00000595860.5:n.543-271del
ENST00000599334.1:c.236+303del
NM_020533.2:c.1360-271del	NP_065394.1:n.1360-271del
NM_020533.3:c.1360-271del MANE Select	NP_065394.1:n.1360-271del