Canonical Allele Identifier: CA2320963596

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022631221

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529992G>C , CM000681.2:g.7529992G>C	GRCh38
NC_000019.9:g.7594878G>C , CM000681.1:g.7594878G>C	GRCh37
NC_000019.8:g.7500878G>C	NCBI36
NG_013374.1:g.841G>C
NG_015806.1:g.12383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+280G>C MANE Select	ENSP00000264079.5:n.1359+280G>C
ENST00000264079.10:c.1359+280G>C	ENSP00000264079.5:n.1359+280G>C
ENST00000394321.9:n.1674+280G>C
ENST00000594692.1:n.355+280G>C
ENST00000595860.5:n.542+280G>C
ENST00000599334.1:c.236+280G>C
NM_020533.2:c.1359+280G>C	NP_065394.1:n.1359+280G>C
NM_020533.3:c.1359+280G>C MANE Select	NP_065394.1:n.1359+280G>C