Canonical Allele Identifier: CA2813476177
Gene: MCOLN1 HGNC NCBI
PNPLA6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534006T>A , CM000681.2:g.7534006T>A GRCh38
NC_000019.9:g.7598892T>A , CM000681.1:g.7598892T>A GRCh37
NC_000019.8:g.7504892T>A NCBI36
NG_013374.1:g.4855T>A
NG_015806.1:g.16397T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*211T>A (MCOLN1) MANE Select ENSP00000264079.5:n.*211T>A
ENST00000221249.10:c.-429T>A (PNPLA6) ENSP00000221249.5:n.-429T>A
ENST00000264079.10:c.*211T>A (MCOLN1) ENSP00000264079.5:n.*211T>A
ENST00000601870.1:c.169+138T>A
NM_020533.2:c.*211T>A (MCOLN1) NP_065394.1:n.*211T>A
NM_020533.3:c.*211T>A (MCOLN1) MANE Select NP_065394.1:n.*211T>A
Search 100 bp 5'
Search 100 bp 3'