Canonical Allele Identifier: CA403091907

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598540G>T (hg19) ; chr19:g.7533654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533654G>T , CM000681.2:g.7533654G>T	GRCh38
NC_000019.9:g.7598540G>T , CM000681.1:g.7598540G>T	GRCh37
NC_000019.8:g.7504540G>T	NCBI36
NG_013374.1:g.4503G>T
NG_015806.1:g.16045G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+1G>T MANE Select	ENSP00000264079.5:n.1706+1G>T
ENST00000264079.10:c.1706+1G>T	ENSP00000264079.5:n.1706+1G>T
ENST00000394321.9:n.2021+1G>T
ENST00000599334.1:c.434+1G>T
ENST00000601870.1:c.59+1G>T
ENST00000602227.1:n.260+1G>T
NM_020533.2:c.1706+1G>T	NP_065394.1:n.1706+1G>T
NM_020533.3:c.1706+1G>T MANE Select	NP_065394.1:n.1706+1G>T