Canonical Allele Identifier: CA2587948159

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527270-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527270_7527271insAAA , CM000681.2:g.7527270_7527271insAAA	GRCh38
NC_000019.9:g.7592156_7592157insAAA , CM000681.1:g.7592156_7592157insAAA	GRCh37
NC_000019.8:g.7498156_7498157insAAA	NCBI36
NG_015806.1:g.9661_9662insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-250_572-249insAAA MANE Select	ENSP00000264079.5:n.572-250_572-249insAAA
ENST00000264079.10:c.572-250_572-249insAAA	ENSP00000264079.5:n.572-250_572-249insAAA
ENST00000394321.9:n.652-250_652-249insAAA
ENST00000598406.1:n.393-250_393-249insAAA
ENST00000601003.1:c.571+344_571+345insAAA	ENSP00000469074.1:n.571+344_571+345insAAA
NM_020533.2:c.572-250_572-249insAAA	NP_065394.1:n.572-250_572-249insAAA
NM_020533.3:c.572-250_572-249insAAA MANE Select	NP_065394.1:n.572-250_572-249insAAA