Canonical Allele Identifier: CA403083687

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1599254397
• MyVariant Identifiers: chr19:g.7592755T>G (hg19) ; chr19:g.7527869T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527869T>G , CM000681.2:g.7527869T>G	GRCh38
NC_000019.9:g.7592755T>G , CM000681.1:g.7592755T>G	GRCh37
NC_000019.8:g.7498755T>G	NCBI36
NG_015806.1:g.10260T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.686T>G MANE Select	ENSP00000264079.5:p.Val229Gly
ENST00000264079.10:c.686T>G	ENSP00000264079.5:p.Val229Gly
ENST00000394321.9:n.1001T>G
ENST00000601003.1:c.577T>G	ENSP00000469074.1:p.Ser193Ala
NM_020533.2:c.686T>G	NP_065394.1:p.Val229Gly
NM_020533.3:c.686T>G MANE Select	NP_065394.1:p.Val229Gly