Canonical Allele Identifier: CA403152977
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7590026G>C (hg19) chr19:g.7525140G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525140G>C , CM000681.2:g.7525140G>C GRCh38
NC_000019.9:g.7590026G>C , CM000681.1:g.7590026G>C GRCh37
NC_000019.8:g.7496026G>C NCBI36
NG_015806.1:g.7531G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.211G>C MANE Select ENSP00000264079.5:p.Val71Leu
ENST00000264079.10:c.211G>C ENSP00000264079.5:p.Val71Leu
ENST00000394321.9:n.291G>C
ENST00000596390.1:n.327G>C
ENST00000601003.1:c.211G>C ENSP00000469074.1:p.Val71Leu
NM_020533.2:c.211G>C NP_065394.1:p.Val71Leu
NM_020533.3:c.211G>C MANE Select NP_065394.1:p.Val71Leu
Search 100 bp 5'
Search 100 bp 3'