Canonical Allele Identifier: CA5646004

Gene: ERLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100154923G>T , CM000672.2:g.100154923G>T	GRCh38
NC_000010.10:g.101914680G>T , CM000672.1:g.101914680G>T	GRCh37
NC_000010.9:g.101904670G>T	NCBI36
NG_052910.1:g.36135C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006459.4:c.762C>A MANE Select	NP_006450.2:p.Ala254=
ENST00000421367.7:c.762C>A MANE Select	ENSP00000410964.2:p.Ala254=
NM_001100626.1:c.762C>A	NP_001094096.1:p.Ala254=
NM_001100626.2:c.762C>A	NP_001094096.1:p.Ala254=
NM_001347856.1:c.510C>A	NP_001334785.1:p.Ala170=
NM_001347856.2:c.510C>A	NP_001334785.1:p.Ala170=
NM_001347857.1:c.762C>A	NP_001334786.1:p.Ala254=
NM_001347857.2:c.762C>A	NP_001334786.1:p.Ala254=
NM_001347858.1:c.282C>A	NP_001334787.1:p.Ala94=
NM_001347858.2:c.282C>A	NP_001334787.1:p.Ala94=
NM_001347859.1:c.762C>A	NP_001334788.1:p.Ala254=
NM_001347859.2:c.762C>A	NP_001334788.1:p.Ala254=
NM_001347860.1:c.762C>A	NP_001334789.1:p.Ala254=
NM_001347860.2:c.762C>A	NP_001334789.1:p.Ala254=
NM_001347861.1:c.762C>A	NP_001334790.1:p.Ala254=
NM_001347861.2:c.762C>A	NP_001334790.1:p.Ala254=
NM_006459.3:c.762C>A	NP_006450.2:p.Ala254=
NR_144755.1:n.859C>A
NR_144755.2:n.831C>A
NR_144756.1:n.810C>A
NR_144756.2:n.782C>A
NR_144757.1:n.832C>A
NR_144757.2:n.804C>A
NR_144758.1:n.941C>A
NR_144758.2:n.913C>A
NR_144759.1:n.919C>A
NR_144759.2:n.971C>A
NR_144760.1:n.893C>A
NR_144760.2:n.945C>A
ENST00000370408.2:c.762C>A	ENSP00000359436.2:p.Ala254=
ENST00000407654.7:c.762C>A	ENSP00000384900.3:p.Ala254=
ENST00000421367.6:c.762C>A	ENSP00000410964.2:p.Ala254=
XM_005269442.2:c.762C>A	XP_005269499.1:p.Ala254=
XM_011539170.1:c.510C>A	XP_011537472.1:p.Ala170=