Canonical Allele Identifier: CA5646000

Gene: ERLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100154896T>C , CM000672.2:g.100154896T>C	GRCh38
NC_000010.10:g.101914653T>C , CM000672.1:g.101914653T>C	GRCh37
NC_000010.9:g.101904643T>C	NCBI36
NG_052910.1:g.36162A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006459.4:c.789A>G MANE Select	NP_006450.2:p.Glu263=
ENST00000421367.7:c.789A>G MANE Select	ENSP00000410964.2:p.Glu263=
NM_001100626.1:c.789A>G	NP_001094096.1:p.Glu263=
NM_001100626.2:c.789A>G	NP_001094096.1:p.Glu263=
NM_001347856.1:c.537A>G	NP_001334785.1:p.Glu179=
NM_001347856.2:c.537A>G	NP_001334785.1:p.Glu179=
NM_001347857.1:c.789A>G	NP_001334786.1:p.Glu263=
NM_001347857.2:c.789A>G	NP_001334786.1:p.Glu263=
NM_001347858.1:c.309A>G	NP_001334787.1:p.Glu103=
NM_001347858.2:c.309A>G	NP_001334787.1:p.Glu103=
NM_001347859.1:c.789A>G	NP_001334788.1:p.Glu263=
NM_001347859.2:c.789A>G	NP_001334788.1:p.Glu263=
NM_001347860.1:c.789A>G	NP_001334789.1:p.Glu263=
NM_001347860.2:c.789A>G	NP_001334789.1:p.Glu263=
NM_001347861.1:c.789A>G	NP_001334790.1:p.Glu263=
NM_001347861.2:c.789A>G	NP_001334790.1:p.Glu263=
NM_006459.3:c.789A>G	NP_006450.2:p.Glu263=
NR_144755.1:n.886A>G
NR_144755.2:n.858A>G
NR_144756.1:n.837A>G
NR_144756.2:n.809A>G
NR_144757.1:n.859A>G
NR_144757.2:n.831A>G
NR_144758.1:n.968A>G
NR_144758.2:n.940A>G
NR_144759.1:n.946A>G
NR_144759.2:n.998A>G
NR_144760.1:n.920A>G
NR_144760.2:n.972A>G
ENST00000370408.2:c.789A>G	ENSP00000359436.2:p.Glu263=
ENST00000407654.7:c.789A>G	ENSP00000384900.3:p.Glu263=
ENST00000421367.6:c.789A>G	ENSP00000410964.2:p.Glu263=
XM_005269442.2:c.789A>G	XP_005269499.1:p.Glu263=
XM_011539170.1:c.537A>G	XP_011537472.1:p.Glu179=