Canonical Allele Identifier: CA9138838
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs762529287
ExAC: 19:7592609 G / GC
gnomAD v2: 19-7592609-G-GC
gnomAD v3: 19-7527723-G-GC
gnomAD v4: 19-7527723-G-GC
MyVariant Identifiers: chr19:g.7592609_7592610insC (hg19) chr19:g.7527723_7527724insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527730dup , CM000681.2:g.7527730dup GRCh38
NC_000019.9:g.7592616dup , CM000681.1:g.7592616dup GRCh37
NC_000019.8:g.7498616dup NCBI36
NG_015806.1:g.10121dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+102dup MANE Select ENSP00000264079.5:n.680+102dup
ENST00000264079.10:c.680+102dup ENSP00000264079.5:n.680+102dup
ENST00000394321.9:n.862dup
ENST00000598406.1:n.603dup
ENST00000601003.1:c.572-134dup ENSP00000469074.1:n.572-134dup
NM_020533.2:c.680+102dup NP_065394.1:n.680+102dup
NM_020533.3:c.680+102dup MANE Select NP_065394.1:n.680+102dup
Search 100 bp 5'
Search 100 bp 3'