Canonical Allele Identifier: CA403089054
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530295-C-G
MyVariant Identifiers: chr19:g.7595181C>G (hg19) chr19:g.7530295C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530295C>G , CM000681.2:g.7530295C>G GRCh38
NC_000019.9:g.7595181C>G , CM000681.1:g.7595181C>G GRCh37
NC_000019.8:g.7501181C>G NCBI36
NG_013374.1:g.1144C>G
NG_015806.1:g.12686C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1369C>G MANE Select ENSP00000264079.5:p.Leu457Val
ENST00000264079.10:c.1369C>G ENSP00000264079.5:p.Leu457Val
ENST00000394321.9:n.1684C>G
ENST00000594692.1:n.365C>G
ENST00000595860.5:n.552C>G
ENST00000599334.1:c.237-140C>G
NM_020533.2:c.1369C>G NP_065394.1:p.Leu457Val
NM_020533.3:c.1369C>G MANE Select NP_065394.1:p.Leu457Val
Search 100 bp 5'
Search 100 bp 3'