Canonical Allele Identifier: CA2587949398

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7530142-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530142T>G , CM000681.2:g.7530142T>G	GRCh38
NC_000019.9:g.7595028T>G , CM000681.1:g.7595028T>G	GRCh37
NC_000019.8:g.7501028T>G	NCBI36
NG_013374.1:g.991T>G
NG_015806.1:g.12533T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-144T>G MANE Select	ENSP00000264079.5:n.1360-144T>G
ENST00000264079.10:c.1360-144T>G	ENSP00000264079.5:n.1360-144T>G
ENST00000394321.9:n.1675-144T>G
ENST00000594692.1:n.356-144T>G
ENST00000595860.5:n.543-144T>G
ENST00000599334.1:c.237-293T>G
NM_020533.2:c.1360-144T>G	NP_065394.1:n.1360-144T>G
NM_020533.3:c.1360-144T>G MANE Select	NP_065394.1:n.1360-144T>G