Canonical Allele Identifier: CA403089053
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530295-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530295C>T , CM000681.2:g.7530295C>T GRCh38
NC_000019.9:g.7595181C>T , CM000681.1:g.7595181C>T GRCh37
NC_000019.8:g.7501181C>T NCBI36
NG_013374.1:g.1144C>T
NG_015806.1:g.12686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1369C>T MANE Select ENSP00000264079.5:p.Leu457Phe
ENST00000264079.10:c.1369C>T ENSP00000264079.5:p.Leu457Phe
ENST00000394321.9:n.1684C>T
ENST00000594692.1:n.365C>T
ENST00000595860.5:n.552C>T
ENST00000599334.1:c.237-140C>T
NM_020533.2:c.1369C>T NP_065394.1:p.Leu457Phe
NM_020533.3:c.1369C>T MANE Select NP_065394.1:p.Leu457Phe