Canonical Allele Identifier: CA9138853
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs527720991
ExAC: 19:7592648 C / CCCCTGCCAGCTGCAGAGTCAGCACGT
gnomAD v2: 19-7592648-C-CCCCTGCCAGCTGCAGAGTCAGCACGT
gnomAD v3: 19-7527762-C-CCCCTGCCAGCTGCAGAGTCAGCACGT
gnomAD v4: 19-7527762-C-CCCCTGCCAGCTGCAGAGTCAGCACGT
MyVariant Identifiers: chr19:g.7592648_7592649insCCCTGCCAGCTGCAGAGTCAGCACGT (hg19) chr19:g.7527762_7527763insCCCTGCCAGCTGCAGAGTCAGCACGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527763_7527788dup , CM000681.2:g.7527763_7527788dup GRCh38
NC_000019.9:g.7592649_7592674dup , CM000681.1:g.7592649_7592674dup GRCh37
NC_000019.8:g.7498649_7498674dup NCBI36
NG_015806.1:g.10154_10179dup

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.681-101_681-76dup MANE Select ENSP00000264079.5:n.681-101_681-76dup
ENST00000264079.10:c.681-101_681-76dup ENSP00000264079.5:n.681-101_681-76dup
ENST00000394321.9:n.895_920dup
ENST00000601003.1:c.572-101_572-76dup ENSP00000469074.1:n.572-101_572-76dup
NM_020533.2:c.681-101_681-76dup NP_065394.1:n.681-101_681-76dup
NM_020533.3:c.681-101_681-76dup MANE Select NP_065394.1:n.681-101_681-76dup
Search 100 bp 5'
Search 100 bp 3'