Canonical Allele Identifier: CA9138793

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 652904
• ClinVar RCV Id: RCV000808567 ; RCV001092938 ; RCV002538037
• dbSNP Id: rs145706318
• ExAC: 19:7592423 C / T
• gnomAD v2: 19-7592423-C-T
• gnomAD v3: 19-7527537-C-T
• gnomAD v4: 19-7527537-C-T
• MyVariant Identifiers: chr19:g.7592423C>T (hg19) ; chr19:g.7527537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527537C>T , CM000681.2:g.7527537C>T	GRCh38
NC_000019.9:g.7592423C>T , CM000681.1:g.7592423C>T	GRCh37
NC_000019.8:g.7498423C>T	NCBI36
NG_015806.1:g.9928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.589C>T MANE Select	ENSP00000264079.5:p.Pro197Ser
ENST00000264079.10:c.589C>T	ENSP00000264079.5:p.Pro197Ser
ENST00000394321.9:n.669C>T
ENST00000598406.1:n.410C>T
ENST00000601003.1:c.572-327C>T	ENSP00000469074.1:n.572-327C>T
NM_020533.2:c.589C>T	NP_065394.1:p.Pro197Ser
NM_020533.3:c.589C>T MANE Select	NP_065394.1:p.Pro197Ser