Canonical Allele Identifier: CA9139101
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs757707434
ExAC: 19:7594492 T / C
gnomAD v2: 19-7594492-T-C
gnomAD v4: 19-7529606-T-C
MyVariant Identifiers: chr19:g.7594492T>C (hg19) chr19:g.7529606T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529606T>C , CM000681.2:g.7529606T>C GRCh38
NC_000019.9:g.7594492T>C , CM000681.1:g.7594492T>C GRCh37
NC_000019.8:g.7500492T>C NCBI36
NG_013374.1:g.455T>C
NG_015806.1:g.11997T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1253T>C MANE Select ENSP00000264079.5:p.Leu418Pro
ENST00000264079.10:c.1253T>C ENSP00000264079.5:p.Leu418Pro
ENST00000394321.9:n.1568T>C
ENST00000594692.1:n.249T>C
ENST00000595860.5:n.436T>C
ENST00000599334.1:c.130T>C
NM_020533.2:c.1253T>C NP_065394.1:p.Leu418Pro
NM_020533.3:c.1253T>C MANE Select NP_065394.1:p.Leu418Pro
Search 100 bp 5'
Search 100 bp 3'