Canonical Allele Identifier: CA403089190
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530317-T-C
MyVariant Identifiers: chr19:g.7595203T>C (hg19) chr19:g.7530317T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530317T>C , CM000681.2:g.7530317T>C GRCh38
NC_000019.9:g.7595203T>C , CM000681.1:g.7595203T>C GRCh37
NC_000019.8:g.7501203T>C NCBI36
NG_013374.1:g.1166T>C
NG_015806.1:g.12708T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1391T>C MANE Select ENSP00000264079.5:p.Leu464Pro
ENST00000264079.10:c.1391T>C ENSP00000264079.5:p.Leu464Pro
ENST00000394321.9:n.1706T>C
ENST00000594692.1:n.387T>C
ENST00000595860.5:n.574T>C
ENST00000599334.1:c.237-118T>C
NM_020533.2:c.1391T>C NP_065394.1:p.Leu464Pro
NM_020533.3:c.1391T>C MANE Select NP_065394.1:p.Leu464Pro
Search 100 bp 5'
Search 100 bp 3'