Canonical Allele Identifier: CA403091630

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598487A>C (hg19) ; chr19:g.7533601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533601A>C , CM000681.2:g.7533601A>C	GRCh38
NC_000019.9:g.7598487A>C , CM000681.1:g.7598487A>C	GRCh37
NC_000019.8:g.7504487A>C	NCBI36
NG_013374.1:g.4450A>C
NG_015806.1:g.15992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1654A>C MANE Select	ENSP00000264079.5:p.Lys552Gln
ENST00000264079.10:c.1654A>C	ENSP00000264079.5:p.Lys552Gln
ENST00000394321.9:n.1969A>C
ENST00000599334.1:c.382A>C
ENST00000601870.1:c.7A>C
ENST00000602227.1:n.208A>C
NM_020533.2:c.1654A>C	NP_065394.1:p.Lys552Gln
NM_020533.3:c.1654A>C MANE Select	NP_065394.1:p.Lys552Gln