Canonical Allele Identifier: CA505226459
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591363A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526477A>T , CM000681.2:g.7526477A>T GRCh38
NC_000019.9:g.7591363A>T , CM000681.1:g.7591363A>T GRCh37
NC_000019.8:g.7497363A>T NCBI36
NG_015806.1:g.8868A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.276A>T MANE Select ENSP00000264079.5:p.Thr92=
ENST00000264079.10:c.276A>T ENSP00000264079.5:p.Thr92=
ENST00000394321.9:n.356A>T
ENST00000596008.1:n.238A>T
ENST00000598406.1:n.97A>T
ENST00000601003.1:c.276A>T ENSP00000469074.1:p.Thr92=
NM_020533.2:c.276A>T NP_065394.1:p.Thr92=
NM_020533.3:c.276A>T MANE Select NP_065394.1:p.Thr92=