Canonical Allele Identifier: CA403087777

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594537C>T (hg19) ; chr19:g.7529651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529651C>T , CM000681.2:g.7529651C>T	GRCh38
NC_000019.9:g.7594537C>T , CM000681.1:g.7594537C>T	GRCh37
NC_000019.8:g.7500537C>T	NCBI36
NG_013374.1:g.500C>T
NG_015806.1:g.12042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1298C>T MANE Select	ENSP00000264079.5:p.Ala433Val
ENST00000264079.10:c.1298C>T	ENSP00000264079.5:p.Ala433Val
ENST00000394321.9:n.1613C>T
ENST00000594692.1:n.294C>T
ENST00000595860.5:n.481C>T
ENST00000599334.1:c.175C>T
NM_020533.2:c.1298C>T	NP_065394.1:p.Ala433Val
NM_020533.3:c.1298C>T MANE Select	NP_065394.1:p.Ala433Val