Canonical Allele Identifier: CA403088125

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594584C>T (hg19) ; chr19:g.7529698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529698C>T , CM000681.2:g.7529698C>T	GRCh38
NC_000019.9:g.7594584C>T , CM000681.1:g.7594584C>T	GRCh37
NC_000019.8:g.7500584C>T	NCBI36
NG_013374.1:g.547C>T
NG_015806.1:g.12089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1345C>T MANE Select	ENSP00000264079.5:p.Pro449Ser
ENST00000264079.10:c.1345C>T	ENSP00000264079.5:p.Pro449Ser
ENST00000394321.9:n.1660C>T
ENST00000594692.1:n.341C>T
ENST00000595860.5:n.528C>T
ENST00000599334.1:c.222C>T
NM_020533.2:c.1345C>T	NP_065394.1:p.Pro449Ser
NM_020533.3:c.1345C>T MANE Select	NP_065394.1:p.Pro449Ser