Canonical Allele Identifier: CA884201447
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1330223983
MyVariant Identifiers: chr19:g.7592783del (hg19) chr19:g.7527897del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527897del , CM000681.2:g.7527897del GRCh38
NC_000019.9:g.7592783del , CM000681.1:g.7592783del GRCh37
NC_000019.8:g.7498783del NCBI36
NG_015806.1:g.10288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.714del MANE Select ENSP00000264079.5:p.Thr239ProfsTer21
ENST00000264079.10:c.714del ENSP00000264079.5:p.Thr239ProfsTer21
ENST00000394321.9:n.1029del
NM_020533.2:c.714del NP_065394.1:p.Thr239ProfsTer21
NM_020533.3:c.714del MANE Select NP_065394.1:p.Thr239ProfsTer21
Search 100 bp 5'
Search 100 bp 3'