Canonical Allele Identifier: CA403084130

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592811A>T (hg19) ; chr19:g.7527925A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527925A>T , CM000681.2:g.7527925A>T	GRCh38
NC_000019.9:g.7592811A>T , CM000681.1:g.7592811A>T	GRCh37
NC_000019.8:g.7498811A>T	NCBI36
NG_015806.1:g.10316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.742A>T MANE Select	ENSP00000264079.5:p.Asn248Tyr
ENST00000264079.10:c.742A>T	ENSP00000264079.5:p.Asn248Tyr
ENST00000394321.9:n.1057A>T
NM_020533.2:c.742A>T	NP_065394.1:p.Asn248Tyr
NM_020533.3:c.742A>T MANE Select	NP_065394.1:p.Asn248Tyr