Canonical Allele Identifier: CA9139105
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1112862
ClinVar RCV Id: RCV001440044
dbSNP Id: rs779383350
ExAC: 19:7594502 C / T
gnomAD v2: 19-7594502-C-T
gnomAD v4: 19-7529616-C-T
MyVariant Identifiers: chr19:g.7594502C>T (hg19) chr19:g.7529616C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529616C>T , CM000681.2:g.7529616C>T GRCh38
NC_000019.9:g.7594502C>T , CM000681.1:g.7594502C>T GRCh37
NC_000019.8:g.7500502C>T NCBI36
NG_013374.1:g.465C>T
NG_015806.1:g.12007C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1263C>T MANE Select ENSP00000264079.5:p.Ala421=
ENST00000264079.10:c.1263C>T ENSP00000264079.5:p.Ala421=
ENST00000394321.9:n.1578C>T
ENST00000594692.1:n.259C>T
ENST00000595860.5:n.446C>T
ENST00000599334.1:c.140C>T
NM_020533.2:c.1263C>T NP_065394.1:p.Ala421=
NM_020533.3:c.1263C>T MANE Select NP_065394.1:p.Ala421=
Search 100 bp 5'
Search 100 bp 3'