Canonical Allele Identifier: CA347435
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs797044832
MyVariant Identifiers: chr19:g.7590050C>T (hg19) chr19:g.7525164C>T (hg38)
PubMed: PMID:20301393
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525164C>T , CM000681.2:g.7525164C>T GRCh38
NC_000019.9:g.7590050C>T , CM000681.1:g.7590050C>T GRCh37
NC_000019.8:g.7496050C>T NCBI36
NG_015806.1:g.7555C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.235C>T MANE Select ENSP00000264079.5:p.Gln79Ter
ENST00000264079.10:c.235C>T ENSP00000264079.5:p.Gln79Ter
ENST00000394321.9:n.315C>T
ENST00000596390.1:n.351C>T
ENST00000601003.1:c.235C>T ENSP00000469074.1:p.Gln79Ter
NM_020533.2:c.235C>T NP_065394.1:p.Gln79Ter
NM_020533.3:c.235C>T MANE Select NP_065394.1:p.Gln79Ter
Search 100 bp 5'
Search 100 bp 3'