Canonical Allele Identifier: CA2559276803

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529903C>T , CM000681.2:g.7529903C>T	GRCh38
NC_000019.9:g.7594789C>T , CM000681.1:g.7594789C>T	GRCh37
NC_000019.8:g.7500789C>T	NCBI36
NG_013374.1:g.752C>T
NG_015806.1:g.12294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+191C>T MANE Select	ENSP00000264079.5:n.1359+191C>T
ENST00000264079.10:c.1359+191C>T	ENSP00000264079.5:n.1359+191C>T
ENST00000394321.9:n.1674+191C>T
ENST00000594692.1:n.355+191C>T
ENST00000595860.5:n.542+191C>T
ENST00000599334.1:c.236+191C>T
NM_020533.2:c.1359+191C>T	NP_065394.1:n.1359+191C>T
NM_020533.3:c.1359+191C>T MANE Select	NP_065394.1:n.1359+191C>T