Canonical Allele Identifier: CA2573155884

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1485527
• ClinVar RCV Id: RCV002030432
• dbSNP Id: rs2146029875

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533516_7533517delinsAT , CM000681.2:g.7533516_7533517delinsAT	GRCh38
NC_000019.9:g.7598402_7598403delinsAT , CM000681.1:g.7598402_7598403delinsAT	GRCh37
NC_000019.8:g.7504402_7504403delinsAT	NCBI36
NG_013374.1:g.4365_4366delinsAT
NG_015806.1:g.15907_15908delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-7_1576-6delinsAT MANE Select	ENSP00000264079.5:n.1576-7_1576-6delinsAT
ENST00000264079.10:c.1576-7_1576-6delinsAT	ENSP00000264079.5:n.1576-7_1576-6delinsAT
ENST00000394321.9:n.1891-7_1891-6delinsAT
ENST00000599334.1:c.304-7_304-6delinsAT
ENST00000602227.1:n.123_124delinsAT
NM_020533.2:c.1576-7_1576-6delinsAT	NP_065394.1:n.1576-7_1576-6delinsAT
NM_020533.3:c.1576-7_1576-6delinsAT MANE Select	NP_065394.1:n.1576-7_1576-6delinsAT