Canonical Allele Identifier: CA16041993
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370398
ClinVar RCV Id: RCV000412404
dbSNP Id: rs1057516458

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529100G>C , CM000681.2:g.7529100G>C GRCh38
NC_000019.9:g.7593986G>C , CM000681.1:g.7593986G>C GRCh37
NC_000019.8:g.7499986G>C NCBI36
NG_015806.1:g.11491G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1135-1G>C MANE Select ENSP00000264079.5:n.1135-1G>C
ENST00000264079.10:c.1135-1G>C ENSP00000264079.5:n.1135-1G>C
ENST00000394321.9:n.1450-1G>C
ENST00000594692.1:n.130G>C
ENST00000595860.5:n.318-1G>C
ENST00000599334.1:c.12-1G>C
NM_020533.2:c.1135-1G>C NP_065394.1:n.1135-1G>C
NM_020533.3:c.1135-1G>C MANE Select NP_065394.1:n.1135-1G>C