Canonical Allele Identifier: CA304857302
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs561495897
MyVariant Identifiers: chr19:g.7598672G>C (hg19) chr19:g.7533786G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533786G>C , CM000681.2:g.7533786G>C GRCh38
NC_000019.9:g.7598672G>C , CM000681.1:g.7598672G>C GRCh37
NC_000019.8:g.7504672G>C NCBI36
NG_013374.1:g.4635G>C
NG_015806.1:g.16177G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1734G>C MANE Select ENSP00000264079.5:p.Leu578=
ENST00000264079.10:c.1734G>C ENSP00000264079.5:p.Leu578=
ENST00000394321.9:n.2049G>C
ENST00000599334.1:c.462G>C
ENST00000601870.1:c.87G>C
ENST00000602227.1:n.288G>C
NM_020533.2:c.1734G>C NP_065394.1:p.Leu578=
NM_020533.3:c.1734G>C MANE Select NP_065394.1:p.Leu578=
Search 100 bp 5'
Search 100 bp 3'