Canonical Allele Identifier: CA2813476178
Gene: MCOLN1 HGNC NCBI
PNPLA6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534009A>T , CM000681.2:g.7534009A>T GRCh38
NC_000019.9:g.7598895A>T , CM000681.1:g.7598895A>T GRCh37
NC_000019.8:g.7504895A>T NCBI36
NG_013374.1:g.4858A>T
NG_015806.1:g.16400A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*214A>T (MCOLN1) MANE Select ENSP00000264079.5:n.*214A>T
ENST00000221249.10:c.-426A>T (PNPLA6) ENSP00000221249.5:n.-426A>T
ENST00000264079.10:c.*214A>T (MCOLN1) ENSP00000264079.5:n.*214A>T
ENST00000601870.1:c.169+141A>T
NM_020533.2:c.*214A>T (MCOLN1) NP_065394.1:n.*214A>T
NM_020533.3:c.*214A>T (MCOLN1) MANE Select NP_065394.1:n.*214A>T
Search 100 bp 5'
Search 100 bp 3'