Canonical Allele Identifier: CA403087141

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594089G>T (hg19) ; chr19:g.7529203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529203G>T , CM000681.2:g.7529203G>T	GRCh38
NC_000019.9:g.7594089G>T , CM000681.1:g.7594089G>T	GRCh37
NC_000019.8:g.7500089G>T	NCBI36
NG_013374.1:g.52G>T
NG_015806.1:g.11594G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1236+1G>T MANE Select	ENSP00000264079.5:n.1236+1G>T
ENST00000264079.10:c.1236+1G>T	ENSP00000264079.5:n.1236+1G>T
ENST00000394321.9:n.1551+1G>T
ENST00000594692.1:n.232+1G>T
ENST00000595860.5:n.419+1G>T
ENST00000599334.1:c.113+1G>T
NM_020533.2:c.1236+1G>T	NP_065394.1:n.1236+1G>T
NM_020533.3:c.1236+1G>T MANE Select	NP_065394.1:n.1236+1G>T