Canonical Allele Identifier: CA993151880
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985476
ClinVar RCV Id: RCV003848603
dbSNP Id: rs2022513442
gnomAD v3: 19-7522793-G-GGCGGCACCGTGGGGCCCCGA
gnomAD v4: 19-7522793-G-GGCGGCACCGTGGGGCCCCGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522794_7522813dup , CM000681.2:g.7522794_7522813dup GRCh38
NC_000019.9:g.7587680_7587699dup , CM000681.1:g.7587680_7587699dup GRCh37
NC_000019.8:g.7493680_7493699dup NCBI36
NG_015806.1:g.5185_5204dup

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.31+13_31+32dup MANE Select ENSP00000264079.5:n.31+13_31+32dup
ENST00000264079.10:c.31+13_31+32dup ENSP00000264079.5:n.31+13_31+32dup
ENST00000394321.9:n.111+13_111+32dup
ENST00000596390.1:n.147+13_147+32dup
ENST00000601003.1:c.31+13_31+32dup ENSP00000469074.1:n.31+13_31+32dup
NM_020533.2:c.31+13_31+32dup NP_065394.1:n.31+13_31+32dup
XR_936293.1:n.926+29_926+48dup
XR_936294.1:n.926+29_926+48dup
XR_936295.1:n.570+29_570+48dup
XR_936293.2:n.952+29_952+48dup
XR_936294.2:n.952+29_952+48dup
NM_020533.3:c.31+13_31+32dup MANE Select NP_065394.1:n.31+13_31+32dup
Search 100 bp 5'
Search 100 bp 3'