Canonical Allele Identifier: CA884205477

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1436100724
• MyVariant Identifiers: chr19:g.7598064_7598065insGGCCCTGCTCCC (hg19) ; chr19:g.7533178_7533179insGGCCCTGCTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533179_7533190dup , CM000681.2:g.7533179_7533190dup	GRCh38
NC_000019.9:g.7598065_7598076dup , CM000681.1:g.7598065_7598076dup	GRCh37
NC_000019.8:g.7504065_7504076dup	NCBI36
NG_013374.1:g.4028_4039dup
NG_015806.1:g.15570_15581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-344_1576-333dup MANE Select	ENSP00000264079.5:n.1576-344_1576-333dup
ENST00000264079.10:c.1576-344_1576-333dup	ENSP00000264079.5:n.1576-344_1576-333dup
ENST00000394321.9:n.1891-344_1891-333dup
ENST00000599334.1:c.304-344_304-333dup
NM_020533.2:c.1576-344_1576-333dup	NP_065394.1:n.1576-344_1576-333dup
NM_020533.3:c.1576-344_1576-333dup MANE Select	NP_065394.1:n.1576-344_1576-333dup