Canonical Allele Identifier: CA403087325
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 893356
ClinVar RCV Id: RCV001131222
dbSNP Id: rs746356009
gnomAD v2: 19-7594494-C-T
gnomAD v3: 19-7529608-C-T
gnomAD v4: 19-7529608-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529608C>T , CM000681.2:g.7529608C>T GRCh38
NC_000019.9:g.7594494C>T , CM000681.1:g.7594494C>T GRCh37
NC_000019.8:g.7500494C>T NCBI36
NG_013374.1:g.457C>T
NG_015806.1:g.11999C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1255C>T MANE Select ENSP00000264079.5:p.Arg419Trp
ENST00000264079.10:c.1255C>T ENSP00000264079.5:p.Arg419Trp
ENST00000394321.9:n.1570C>T
ENST00000594692.1:n.251C>T
ENST00000595860.5:n.438C>T
ENST00000599334.1:c.132C>T
NM_020533.2:c.1255C>T NP_065394.1:p.Arg419Trp
NM_020533.3:c.1255C>T MANE Select NP_065394.1:p.Arg419Trp