Canonical Allele Identifier: CA2320963544

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022629909

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529906C>T , CM000681.2:g.7529906C>T	GRCh38
NC_000019.9:g.7594792C>T , CM000681.1:g.7594792C>T	GRCh37
NC_000019.8:g.7500792C>T	NCBI36
NG_013374.1:g.755C>T
NG_015806.1:g.12297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+194C>T MANE Select	ENSP00000264079.5:n.1359+194C>T
ENST00000264079.10:c.1359+194C>T	ENSP00000264079.5:n.1359+194C>T
ENST00000394321.9:n.1674+194C>T
ENST00000594692.1:n.355+194C>T
ENST00000595860.5:n.542+194C>T
ENST00000599334.1:c.236+194C>T
NM_020533.2:c.1359+194C>T	NP_065394.1:n.1359+194C>T
NM_020533.3:c.1359+194C>T MANE Select	NP_065394.1:n.1359+194C>T