Canonical Allele Identifier: CA2813464287

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527971_7527972dup , CM000681.2:g.7527971_7527972dup	GRCh38
NC_000019.9:g.7592857_7592858dup , CM000681.1:g.7592857_7592858dup	GRCh37
NC_000019.8:g.7498857_7498858dup	NCBI36
NG_015806.1:g.10362_10363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.777+11_777+12dup MANE Select	ENSP00000264079.5:n.777+11_777+12dup
ENST00000264079.10:c.777+11_777+12dup	ENSP00000264079.5:n.777+11_777+12dup
ENST00000394321.9:n.1092+11_1092+12dup
NM_020533.2:c.777+11_777+12dup	NP_065394.1:n.777+11_777+12dup
NM_020533.3:c.777+11_777+12dup MANE Select	NP_065394.1:n.777+11_777+12dup