Canonical Allele Identifier: CA403152986

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7590030A>T (hg19) ; chr19:g.7525144A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525144A>T , CM000681.2:g.7525144A>T	GRCh38
NC_000019.9:g.7590030A>T , CM000681.1:g.7590030A>T	GRCh37
NC_000019.8:g.7496030A>T	NCBI36
NG_015806.1:g.7535A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.215A>T MANE Select	ENSP00000264079.5:p.Lys72Met
ENST00000264079.10:c.215A>T	ENSP00000264079.5:p.Lys72Met
ENST00000394321.9:n.295A>T
ENST00000596390.1:n.331A>T
ENST00000601003.1:c.215A>T	ENSP00000469074.1:p.Lys72Met
NM_020533.2:c.215A>T	NP_065394.1:p.Lys72Met
NM_020533.3:c.215A>T MANE Select	NP_065394.1:p.Lys72Met