Canonical Allele Identifier: CA403089661

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022638561
• gnomAD v4: 19-7530382-C-T
• COSMIC: COSM1214738
• MyVariant Identifiers: chr19:g.7595268C>T (hg19) ; chr19:g.7530382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530382C>T , CM000681.2:g.7530382C>T	GRCh38
NC_000019.9:g.7595268C>T , CM000681.1:g.7595268C>T	GRCh37
NC_000019.8:g.7501268C>T	NCBI36
NG_013374.1:g.1231C>T
NG_015806.1:g.12773C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1456C>T MANE Select	ENSP00000264079.5:p.Arg486Cys
ENST00000264079.10:c.1456C>T	ENSP00000264079.5:p.Arg486Cys
ENST00000394321.9:n.1771C>T
ENST00000594692.1:n.452C>T
ENST00000595860.5:n.639C>T
ENST00000599334.1:c.237-53C>T
NM_020533.2:c.1456C>T	NP_065394.1:p.Arg486Cys
NM_020533.3:c.1456C>T MANE Select	NP_065394.1:p.Arg486Cys