Canonical Allele Identifier: CA403092099
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533782T>C , CM000681.2:g.7533782T>C GRCh38
NC_000019.9:g.7598668T>C , CM000681.1:g.7598668T>C GRCh37
NC_000019.8:g.7504668T>C NCBI36
NG_013374.1:g.4631T>C
NG_015806.1:g.16173T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1730T>C MANE Select ENSP00000264079.5:p.Leu577Pro
ENST00000264079.10:c.1730T>C ENSP00000264079.5:p.Leu577Pro
ENST00000394321.9:n.2045T>C
ENST00000599334.1:c.458T>C
ENST00000601870.1:c.83T>C
ENST00000602227.1:n.284T>C
NM_020533.2:c.1730T>C NP_065394.1:p.Leu577Pro
NM_020533.3:c.1730T>C MANE Select NP_065394.1:p.Leu577Pro