Canonical Allele Identifier: CA2832580058

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527652_7527653dup , CM000681.2:g.7527652_7527653dup	GRCh38
NC_000019.9:g.7592538_7592539dup , CM000681.1:g.7592538_7592539dup	GRCh37
NC_000019.8:g.7498538_7498539dup	NCBI36
NG_015806.1:g.10043_10044dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+24_680+25dup MANE Select	ENSP00000264079.5:n.680+24_680+25dup
ENST00000264079.10:c.680+24_680+25dup	ENSP00000264079.5:n.680+24_680+25dup
ENST00000394321.9:n.784_785dup
ENST00000598406.1:n.525_526dup
ENST00000601003.1:c.572-212_572-211dup	ENSP00000469074.1:n.572-212_572-211dup
NM_020533.2:c.680+24_680+25dup	NP_065394.1:n.680+24_680+25dup
NM_020533.3:c.680+24_680+25dup MANE Select	NP_065394.1:n.680+24_680+25dup