Canonical Allele Identifier: CA2813475743

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529983_7530014dup , CM000681.2:g.7529983_7530014dup	GRCh38
NC_000019.9:g.7594869_7594900dup , CM000681.1:g.7594869_7594900dup	GRCh37
NC_000019.8:g.7500869_7500900dup	NCBI36
NG_013374.1:g.832_863dup
NG_015806.1:g.12374_12405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+271_1360-272dup MANE Select	ENSP00000264079.5:n.1359+271_1360-272dup
ENST00000264079.10:c.1359+271_1360-272dup	ENSP00000264079.5:n.1359+271_1360-272dup
ENST00000394321.9:n.1674+271_1675-272dup
ENST00000594692.1:n.355+271_356-272dup
ENST00000595860.5:n.542+271_543-272dup
ENST00000599334.1:c.236+271_236+302dup
NM_020533.2:c.1359+271_1360-272dup	NP_065394.1:n.1359+271_1360-272dup
NM_020533.3:c.1359+271_1360-272dup MANE Select	NP_065394.1:n.1359+271_1360-272dup