Canonical Allele Identifier: CA2587949447

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7530164-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530164G>T , CM000681.2:g.7530164G>T	GRCh38
NC_000019.9:g.7595050G>T , CM000681.1:g.7595050G>T	GRCh37
NC_000019.8:g.7501050G>T	NCBI36
NG_013374.1:g.1013G>T
NG_015806.1:g.12555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-122G>T MANE Select	ENSP00000264079.5:n.1360-122G>T
ENST00000264079.10:c.1360-122G>T	ENSP00000264079.5:n.1360-122G>T
ENST00000394321.9:n.1675-122G>T
ENST00000594692.1:n.356-122G>T
ENST00000595860.5:n.543-122G>T
ENST00000599334.1:c.237-271G>T
NM_020533.2:c.1360-122G>T	NP_065394.1:n.1360-122G>T
NM_020533.3:c.1360-122G>T MANE Select	NP_065394.1:n.1360-122G>T