Canonical Allele Identifier: CA505226734
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1324091714
gnomAD v2: 19-7591403-C-T
gnomAD v4: 19-7526517-C-T
MyVariant Identifiers: chr19:g.7591403C>T (hg19) chr19:g.7526517C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526517C>T , CM000681.2:g.7526517C>T GRCh38
NC_000019.9:g.7591403C>T , CM000681.1:g.7591403C>T GRCh37
NC_000019.8:g.7497403C>T NCBI36
NG_015806.1:g.8908C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.316C>T MANE Select ENSP00000264079.5:p.Leu106=
ENST00000264079.10:c.316C>T ENSP00000264079.5:p.Leu106=
ENST00000394321.9:n.396C>T
ENST00000596008.1:n.278C>T
ENST00000598406.1:n.137C>T
ENST00000601003.1:c.316C>T ENSP00000469074.1:p.Leu106=
NM_020533.2:c.316C>T NP_065394.1:p.Leu106=
NM_020533.3:c.316C>T MANE Select NP_065394.1:p.Leu106=
Search 100 bp 5'
Search 100 bp 3'