Canonical Allele Identifier: CA403087251

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594480T>C (hg19) ; chr19:g.7529594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529594T>C , CM000681.2:g.7529594T>C	GRCh38
NC_000019.9:g.7594480T>C , CM000681.1:g.7594480T>C	GRCh37
NC_000019.8:g.7500480T>C	NCBI36
NG_013374.1:g.443T>C
NG_015806.1:g.11985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1241T>C MANE Select	ENSP00000264079.5:p.Leu414Pro
ENST00000264079.10:c.1241T>C	ENSP00000264079.5:p.Leu414Pro
ENST00000394321.9:n.1556T>C
ENST00000594692.1:n.237T>C
ENST00000595860.5:n.424T>C
ENST00000599334.1:c.118T>C
NM_020533.2:c.1241T>C	NP_065394.1:p.Leu414Pro
NM_020533.3:c.1241T>C MANE Select	NP_065394.1:p.Leu414Pro