Canonical Allele Identifier: CA403089376

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7595229A>C (hg19) ; chr19:g.7530343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530343A>C , CM000681.2:g.7530343A>C	GRCh38
NC_000019.9:g.7595229A>C , CM000681.1:g.7595229A>C	GRCh37
NC_000019.8:g.7501229A>C	NCBI36
NG_013374.1:g.1192A>C
NG_015806.1:g.12734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1417A>C MANE Select	ENSP00000264079.5:p.Met473Leu
ENST00000264079.10:c.1417A>C	ENSP00000264079.5:p.Met473Leu
ENST00000394321.9:n.1732A>C
ENST00000594692.1:n.413A>C
ENST00000595860.5:n.600A>C
ENST00000599334.1:c.237-92A>C
NM_020533.2:c.1417A>C	NP_065394.1:p.Met473Leu
NM_020533.3:c.1417A>C MANE Select	NP_065394.1:p.Met473Leu