Canonical Allele Identifier: CA403092081
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598665C>G (hg19) chr19:g.7533779C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533779C>G , CM000681.2:g.7533779C>G GRCh38
NC_000019.9:g.7598665C>G , CM000681.1:g.7598665C>G GRCh37
NC_000019.8:g.7504665C>G NCBI36
NG_013374.1:g.4628C>G
NG_015806.1:g.16170C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1727C>G MANE Select ENSP00000264079.5:p.Ser576Trp
ENST00000264079.10:c.1727C>G ENSP00000264079.5:p.Ser576Trp
ENST00000394321.9:n.2042C>G
ENST00000599334.1:c.455C>G
ENST00000601870.1:c.80C>G
ENST00000602227.1:n.281C>G
NM_020533.2:c.1727C>G NP_065394.1:p.Ser576Trp
NM_020533.3:c.1727C>G MANE Select NP_065394.1:p.Ser576Trp
Search 100 bp 5'
Search 100 bp 3'