Canonical Allele Identifier: CA403152946
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525126T>C , CM000681.2:g.7525126T>C GRCh38
NC_000019.9:g.7590012T>C , CM000681.1:g.7590012T>C GRCh37
NC_000019.8:g.7496012T>C NCBI36
NG_015806.1:g.7517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.197T>C MANE Select ENSP00000264079.5:p.Leu66Pro
ENST00000264079.10:c.197T>C ENSP00000264079.5:p.Leu66Pro
ENST00000394321.9:n.277T>C
ENST00000596390.1:n.313T>C
ENST00000601003.1:c.197T>C ENSP00000469074.1:p.Leu66Pro
NM_020533.2:c.197T>C NP_065394.1:p.Leu66Pro
NM_020533.3:c.197T>C MANE Select NP_065394.1:p.Leu66Pro