Canonical Allele Identifier: CA9138889
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs767399088
ExAC: 19:7592828 C / CAGCACTTTGGGAGGCTGAGGAGGAAGGAT
MyVariant Identifiers: chr19:g.7592828_7592829insAGCACTTTGGGAGGCTGAGGAGGAAGGAT (hg19) chr19:g.7527942_7527943insAGCACTTTGGGAGGCTGAGGAGGAAGGAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527942_7527943insAGCACTTTGGGAGGCTGAGGAGGAAGGAT , CM000681.2:g.7527942_7527943insAGCACTTTGGGAGGCTGAGGAGGAAGGAT GRCh38
NC_000019.9:g.7592828_7592829insAGCACTTTGGGAGGCTGAGGAGGAAGGAT , CM000681.1:g.7592828_7592829insAGCACTTTGGGAGGCTGAGGAGGAAGGAT GRCh37
NC_000019.8:g.7498828_7498829insAGCACTTTGGGAGGCTGAGGAGGAAGGAT NCBI36
NG_015806.1:g.10333_10334insAGCACTTTGGGAGGCTGAGGAGGAAGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.759_760insAGCACTTTGGGAGGCTGAGGAGGAAGGAT MANE Select ENSP00000264079.5:p.Tyr254SerfsTer6
ENST00000264079.10:c.759_760insAGCACTTTGGGAGGCTGAGGAGGAAGGAT ENSP00000264079.5:p.Tyr254SerfsTer6
ENST00000394321.9:n.1074_1075insAGCACTTTGGGAGGCTGAGGAGGAAGGAT
NM_020533.2:c.759_760insAGCACTTTGGGAGGCTGAGGAGGAAGGAT NP_065394.1:p.Tyr254SerfsTer6
NM_020533.3:c.759_760insAGCACTTTGGGAGGCTGAGGAGGAAGGAT MANE Select NP_065394.1:p.Tyr254SerfsTer6
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