Canonical Allele Identifier: CA9138732
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1153423
ClinVar RCV Id: RCV001495080
dbSNP Id: rs746077436
ExAC: 19:7591649 C / T
gnomAD v2: 19-7591649-C-T
gnomAD v4: 19-7526763-C-T
MyVariant Identifiers: chr19:g.7591649C>T (hg19) chr19:g.7526763C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526763C>T , CM000681.2:g.7526763C>T GRCh38
NC_000019.9:g.7591649C>T , CM000681.1:g.7591649C>T GRCh37
NC_000019.8:g.7497649C>T NCBI36
NG_015806.1:g.9154C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.408C>T MANE Select ENSP00000264079.5:p.Tyr136=
ENST00000264079.10:c.408C>T ENSP00000264079.5:p.Tyr136=
ENST00000394321.9:n.488C>T
ENST00000596008.1:n.370C>T
ENST00000598406.1:n.229C>T
ENST00000601003.1:c.408C>T ENSP00000469074.1:p.Tyr136=
NM_020533.2:c.408C>T NP_065394.1:p.Tyr136=
NM_020533.3:c.408C>T MANE Select NP_065394.1:p.Tyr136=
Search 100 bp 5'
Search 100 bp 3'