Canonical Allele Identifier: CA304854892

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1040559184
• MyVariant Identifiers: chr19:g.7594806C>T (hg19) ; chr19:g.7529920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529920C>T , CM000681.2:g.7529920C>T	GRCh38
NC_000019.9:g.7594806C>T , CM000681.1:g.7594806C>T	GRCh37
NC_000019.8:g.7500806C>T	NCBI36
NG_013374.1:g.769C>T
NG_015806.1:g.12311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+208C>T MANE Select	ENSP00000264079.5:n.1359+208C>T
ENST00000264079.10:c.1359+208C>T	ENSP00000264079.5:n.1359+208C>T
ENST00000394321.9:n.1674+208C>T
ENST00000594692.1:n.355+208C>T
ENST00000595860.5:n.542+208C>T
ENST00000599334.1:c.236+208C>T
NM_020533.2:c.1359+208C>T	NP_065394.1:n.1359+208C>T
NM_020533.3:c.1359+208C>T MANE Select	NP_065394.1:n.1359+208C>T