Canonical Allele Identifier: CA2320965674
Gene: MCOLN1 HGNC NCBI
PNPLA6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534004T= , CM000681.2:g.7534004T= GRCh38
NC_000019.9:g.7598890T= , CM000681.1:g.7598890T= GRCh37
NC_000019.8:g.7504890T= NCBI36
NG_013374.1:g.4853T=
NG_015806.1:g.16395T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*209T= (MCOLN1) MANE Select ENSP00000264079.5:n.*209T=
ENST00000221249.10:c.-431T= (PNPLA6) ENSP00000221249.5:n.-431T=
ENST00000264079.10:c.*209T= (MCOLN1) ENSP00000264079.5:n.*209T=
ENST00000601870.1:c.169+136T=
NM_020533.2:c.*209T= (MCOLN1) NP_065394.1:n.*209T=
NM_020533.3:c.*209T= (MCOLN1) MANE Select NP_065394.1:n.*209T=
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