Canonical Allele Identifier: CA884205560

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1187447105
• MyVariant Identifiers: chr19:g.7598186_7598187insT (hg19) ; chr19:g.7533300_7533301insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533300_7533301insT , CM000681.2:g.7533300_7533301insT	GRCh38
NC_000019.9:g.7598186_7598187insT , CM000681.1:g.7598186_7598187insT	GRCh37
NC_000019.8:g.7504186_7504187insT	NCBI36
NG_013374.1:g.4149_4150insT
NG_015806.1:g.15691_15692insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-223_1576-222insT MANE Select	ENSP00000264079.5:n.1576-223_1576-222insT
ENST00000264079.10:c.1576-223_1576-222insT	ENSP00000264079.5:n.1576-223_1576-222insT
ENST00000394321.9:n.1891-223_1891-222insT
ENST00000599334.1:c.304-223_304-222insT
NM_020533.2:c.1576-223_1576-222insT	NP_065394.1:n.1576-223_1576-222insT
NM_020533.3:c.1576-223_1576-222insT MANE Select	NP_065394.1:n.1576-223_1576-222insT