Canonical Allele Identifier: CA403082169

Gene: MCOLN1

Linked Data

• dbSNP Id: rs377681899
• gnomAD v4: 19-7527570-G-T
• MyVariant Identifiers: chr19:g.7592456G>T (hg19) ; chr19:g.7527570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527570G>T , CM000681.2:g.7527570G>T	GRCh38
NC_000019.9:g.7592456G>T , CM000681.1:g.7592456G>T	GRCh37
NC_000019.8:g.7498456G>T	NCBI36
NG_015806.1:g.9961G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.622G>T MANE Select	ENSP00000264079.5:p.Asp208Tyr
ENST00000264079.10:c.622G>T	ENSP00000264079.5:p.Asp208Tyr
ENST00000394321.9:n.702G>T
ENST00000598406.1:n.443G>T
ENST00000601003.1:c.572-294G>T	ENSP00000469074.1:n.572-294G>T
NM_020533.2:c.622G>T	NP_065394.1:p.Asp208Tyr
NM_020533.3:c.622G>T MANE Select	NP_065394.1:p.Asp208Tyr