Canonical Allele Identifier: CA993155461

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022632048
• gnomAD v3: 19-7530032-ACCCGGCCATTCACGTGGGACCCCAGCCTGGGT-A
• gnomAD v4: 19-7530032-ACCCGGCCATTCACGTGGGACCCCAGCCTGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530064_7530095del , CM000681.2:g.7530064_7530095del	GRCh38
NC_000019.9:g.7594950_7594981del , CM000681.1:g.7594950_7594981del	GRCh37
NC_000019.8:g.7500950_7500981del	NCBI36
NG_013374.1:g.913_944del
NG_015806.1:g.12455_12486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-222_1360-191del MANE Select	ENSP00000264079.5:n.1360-222_1360-191del
ENST00000264079.10:c.1360-222_1360-191del	ENSP00000264079.5:n.1360-222_1360-191del
ENST00000394321.9:n.1675-222_1675-191del
ENST00000594692.1:n.356-222_356-191del
ENST00000595860.5:n.543-222_543-191del
ENST00000599334.1:c.236+352_237-340del
NM_020533.2:c.1360-222_1360-191del	NP_065394.1:n.1360-222_1360-191del
NM_020533.3:c.1360-222_1360-191del MANE Select	NP_065394.1:n.1360-222_1360-191del