Canonical Allele Identifier: CA993153511

Gene: MCOLN1

Linked Data

• gnomAD v3: 19-7526667-T-TTGGGCGGGCAGGTGCTGG
• gnomAD v4: 19-7526667-T-TTGGGCGGGCAGGTGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526683_7526700dup , CM000681.2:g.7526683_7526700dup	GRCh38
NC_000019.9:g.7591569_7591586dup , CM000681.1:g.7591569_7591586dup	GRCh37
NC_000019.8:g.7497569_7497586dup	NCBI36
NG_015806.1:g.9074_9091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.406-78_406-61dup MANE Select	ENSP00000264079.5:n.406-78_406-61dup
ENST00000264079.10:c.406-78_406-61dup	ENSP00000264079.5:n.406-78_406-61dup
ENST00000394321.9:n.486-78_486-61dup
ENST00000596008.1:n.368-78_368-61dup
ENST00000598406.1:n.227-78_227-61dup
ENST00000601003.1:c.406-78_406-61dup	ENSP00000469074.1:n.406-78_406-61dup
NM_020533.2:c.406-78_406-61dup	NP_065394.1:n.406-78_406-61dup
NM_020533.3:c.406-78_406-61dup MANE Select	NP_065394.1:n.406-78_406-61dup