Canonical Allele Identifier: CA2587949989

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529855-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529855_7529856insAA , CM000681.2:g.7529855_7529856insAA	GRCh38
NC_000019.9:g.7594741_7594742insAA , CM000681.1:g.7594741_7594742insAA	GRCh37
NC_000019.8:g.7500741_7500742insAA	NCBI36
NG_013374.1:g.704_705insAA
NG_015806.1:g.12246_12247insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+143_1359+144insAA MANE Select	ENSP00000264079.5:n.1359+143_1359+144insAA
ENST00000264079.10:c.1359+143_1359+144insAA	ENSP00000264079.5:n.1359+143_1359+144insAA
ENST00000394321.9:n.1674+143_1674+144insAA
ENST00000594692.1:n.355+143_355+144insAA
ENST00000595860.5:n.542+143_542+144insAA
ENST00000599334.1:c.236+143_236+144insAA
NM_020533.2:c.1359+143_1359+144insAA	NP_065394.1:n.1359+143_1359+144insAA
NM_020533.3:c.1359+143_1359+144insAA MANE Select	NP_065394.1:n.1359+143_1359+144insAA