Canonical Allele Identifier: CA884202850

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1197817797
• gnomAD v4: 19-7529016-CAG-C
• MyVariant Identifiers: chr19:g.7593903_7593904del (hg19) ; chr19:g.7529017_7529018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529017_7529018del , CM000681.2:g.7529017_7529018del	GRCh38
NC_000019.9:g.7593903_7593904del , CM000681.1:g.7593903_7593904del	GRCh37
NC_000019.8:g.7499903_7499904del	NCBI36
NG_015806.1:g.11408_11409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1134+47_1134+48del MANE Select	ENSP00000264079.5:n.1134+47_1134+48del
ENST00000264079.10:c.1134+47_1134+48del	ENSP00000264079.5:n.1134+47_1134+48del
ENST00000394321.9:n.1449+47_1449+48del
ENST00000594692.1:n.47_48del
ENST00000595860.5:n.317+47_317+48del
ENST00000599334.1:c.11+47_11+48del
NM_020533.2:c.1134+47_1134+48del	NP_065394.1:n.1134+47_1134+48del
NM_020533.3:c.1134+47_1134+48del MANE Select	NP_065394.1:n.1134+47_1134+48del