Canonical Allele Identifier: CA884198960

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1396170185
• MyVariant Identifiers: chr19:g.7590085_7590094del (hg19) ; chr19:g.7525199_7525208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525202_7525211del , CM000681.2:g.7525202_7525211del	GRCh38
NC_000019.9:g.7590088_7590097del , CM000681.1:g.7590088_7590097del	GRCh37
NC_000019.8:g.7496088_7496097del	NCBI36
NG_015806.1:g.7593_7602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+36_237+45del MANE Select	ENSP00000264079.5:n.237+36_237+45del
ENST00000264079.10:c.237+36_237+45del	ENSP00000264079.5:n.237+36_237+45del
ENST00000394321.9:n.317+36_317+45del
ENST00000596390.1:n.389_398del
ENST00000601003.1:c.237+36_237+45del	ENSP00000469074.1:n.237+36_237+45del
NM_020533.2:c.237+36_237+45del	NP_065394.1:n.237+36_237+45del
NM_020533.3:c.237+36_237+45del MANE Select	NP_065394.1:n.237+36_237+45del