Canonical Allele Identifier: CA631462885
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1157386791
gnomAD v2: 19-7598696-C-CCA
gnomAD v4: 19-7533810-C-CCA
MyVariant Identifiers: chr19:g.7598696_7598697insCA (hg19) chr19:g.7533810_7533811insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533810_7533811insCA , CM000681.2:g.7533810_7533811insCA GRCh38
NC_000019.9:g.7598696_7598697insCA , CM000681.1:g.7598696_7598697insCA GRCh37
NC_000019.8:g.7504696_7504697insCA NCBI36
NG_013374.1:g.4659_4660insCA
NG_015806.1:g.16201_16202insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*15_*16insCA MANE Select ENSP00000264079.5:n.*15_*16insCA
ENST00000264079.10:c.*15_*16insCA ENSP00000264079.5:n.*15_*16insCA
ENST00000394321.9:n.2073_2074insCA
ENST00000599334.1:c.486_487insCA
ENST00000601870.1:c.111_112insCA
ENST00000602227.1:n.312_313insCA
NM_020533.2:c.*15_*16insCA NP_065394.1:n.*15_*16insCA
NM_020533.3:c.*15_*16insCA MANE Select NP_065394.1:n.*15_*16insCA
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