Canonical Allele Identifier: CA2587950506

Gene: MCOLN1 PNPLA6

Linked Data

• gnomAD v4: 19-7534007-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7534007T>C , CM000681.2:g.7534007T>C	GRCh38
NC_000019.9:g.7598893T>C , CM000681.1:g.7598893T>C	GRCh37
NC_000019.8:g.7504893T>C	NCBI36
NG_013374.1:g.4856T>C
NG_015806.1:g.16398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*212T>C (MCOLN1) MANE Select	ENSP00000264079.5:n.*212T>C
ENST00000221249.10:c.-428T>C (PNPLA6)	ENSP00000221249.5:n.-428T>C
ENST00000264079.10:c.*212T>C (MCOLN1)	ENSP00000264079.5:n.*212T>C
ENST00000601870.1:c.169+139T>C
NM_020533.2:c.*212T>C (MCOLN1)	NP_065394.1:n.*212T>C
NM_020533.3:c.*212T>C (MCOLN1) MANE Select	NP_065394.1:n.*212T>C