Canonical Allele Identifier: CA403080769

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7591382A>T (hg19) ; chr19:g.7526496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526496A>T , CM000681.2:g.7526496A>T	GRCh38
NC_000019.9:g.7591382A>T , CM000681.1:g.7591382A>T	GRCh37
NC_000019.8:g.7497382A>T	NCBI36
NG_015806.1:g.8887A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.295A>T MANE Select	ENSP00000264079.5:p.Ile99Phe
ENST00000264079.10:c.295A>T	ENSP00000264079.5:p.Ile99Phe
ENST00000394321.9:n.375A>T
ENST00000596008.1:n.257A>T
ENST00000598406.1:n.116A>T
ENST00000601003.1:c.295A>T	ENSP00000469074.1:p.Ile99Phe
NM_020533.2:c.295A>T	NP_065394.1:p.Ile99Phe
NM_020533.3:c.295A>T MANE Select	NP_065394.1:p.Ile99Phe