Canonical Allele Identifier: CA403086269

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7593830A>T (hg19) ; chr19:g.7528944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528944A>T , CM000681.2:g.7528944A>T	GRCh38
NC_000019.9:g.7593830A>T , CM000681.1:g.7593830A>T	GRCh37
NC_000019.8:g.7499830A>T	NCBI36
NG_015806.1:g.11335A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1108A>T MANE Select	ENSP00000264079.5:p.Ile370Phe
ENST00000264079.10:c.1108A>T	ENSP00000264079.5:p.Ile370Phe
ENST00000394321.9:n.1423A>T
ENST00000595860.5:n.291A>T
NM_020533.2:c.1108A>T	NP_065394.1:p.Ile370Phe
NM_020533.3:c.1108A>T MANE Select	NP_065394.1:p.Ile370Phe