Canonical Allele Identifier: CA403092077
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533779-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1727C>T MANE Select ENSP00000264079.5:p.Ser576Leu
ENST00000264079.10:c.1727C>T ENSP00000264079.5:p.Ser576Leu
ENST00000394321.9:n.2042C>T
ENST00000599334.1:c.455C>T
ENST00000601870.1:c.80C>T
ENST00000602227.1:n.281C>T
NM_020533.2:c.1727C>T NP_065394.1:p.Ser576Leu
NM_020533.3:c.1727C>T MANE Select NP_065394.1:p.Ser576Leu