Canonical Allele Identifier: CA9138707
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590286
ClinVar RCV Id: RCV002101431
dbSNP Id: rs2146022588
ExAC: 19:7591499 GTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT / G
gnomAD v2: 19-7591499-GTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT-G
gnomAD v4: 19-7526613-GTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT-G
MyVariant Identifiers: chr19:g.7591500_7591553del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526637_7526690del , CM000681.2:g.7526637_7526690del GRCh38
NC_000019.9:g.7591523_7591576del , CM000681.1:g.7591523_7591576del GRCh37
NC_000019.8:g.7497523_7497576del NCBI36
NG_015806.1:g.9028_9081del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.405+31_406-71del MANE Select ENSP00000264079.5:n.405+31_406-71del
ENST00000264079.10:c.405+31_406-71del ENSP00000264079.5:n.405+31_406-71del
ENST00000394321.9:n.485+31_486-71del
ENST00000596008.1:n.367+31_368-71del
ENST00000598406.1:n.226+31_227-71del
ENST00000601003.1:c.405+31_406-71del ENSP00000469074.1:n.405+31_406-71del
NM_020533.2:c.405+31_406-71del NP_065394.1:n.405+31_406-71del
NM_020533.3:c.405+31_406-71del MANE Select NP_065394.1:n.405+31_406-71del
Search 100 bp 5'
Search 100 bp 3'