Canonical Allele Identifier: CA631319330

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1255536169
• gnomAD v2: 19-7598170-A-AG
• gnomAD v3: 19-7533284-A-AG
• gnomAD v4: 19-7533284-A-AG
• MyVariant Identifiers: chr19:g.7598170_7598171insG (hg19) ; chr19:g.7533284_7533285insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533284_7533285insG , CM000681.2:g.7533284_7533285insG	GRCh38
NC_000019.9:g.7598170_7598171insG , CM000681.1:g.7598170_7598171insG	GRCh37
NC_000019.8:g.7504170_7504171insG	NCBI36
NG_013374.1:g.4133_4134insG
NG_015806.1:g.15675_15676insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-239_1576-238insG MANE Select	ENSP00000264079.5:n.1576-239_1576-238insG
ENST00000264079.10:c.1576-239_1576-238insG	ENSP00000264079.5:n.1576-239_1576-238insG
ENST00000394321.9:n.1891-239_1891-238insG
ENST00000599334.1:c.304-239_304-238insG
NM_020533.2:c.1576-239_1576-238insG	NP_065394.1:n.1576-239_1576-238insG
NM_020533.3:c.1576-239_1576-238insG MANE Select	NP_065394.1:n.1576-239_1576-238insG