Canonical Allele Identifier: CA2587949428

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7530157-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530157G>T , CM000681.2:g.7530157G>T	GRCh38
NC_000019.9:g.7595043G>T , CM000681.1:g.7595043G>T	GRCh37
NC_000019.8:g.7501043G>T	NCBI36
NG_013374.1:g.1006G>T
NG_015806.1:g.12548G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-129G>T MANE Select	ENSP00000264079.5:n.1360-129G>T
ENST00000264079.10:c.1360-129G>T	ENSP00000264079.5:n.1360-129G>T
ENST00000394321.9:n.1675-129G>T
ENST00000594692.1:n.356-129G>T
ENST00000595860.5:n.543-129G>T
ENST00000599334.1:c.237-278G>T
NM_020533.2:c.1360-129G>T	NP_065394.1:n.1360-129G>T
NM_020533.3:c.1360-129G>T MANE Select	NP_065394.1:n.1360-129G>T