Canonical Allele Identifier: CA5646097

Gene: ERLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100176060G>A , CM000672.2:g.100176060G>A	GRCh38
NC_000010.10:g.101935817G>A , CM000672.1:g.101935817G>A	GRCh37
NC_000010.9:g.101925807G>A	NCBI36
NG_052910.1:g.14998C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006459.4:c.315C>T MANE Select	NP_006450.2:p.Ile105=
ENST00000421367.7:c.315C>T MANE Select	ENSP00000410964.2:p.Ile105=
NM_001100626.1:c.315C>T	NP_001094096.1:p.Ile105=
NM_001100626.2:c.315C>T	NP_001094096.1:p.Ile105=
NM_001347856.1:c.63C>T	NP_001334785.1:p.Ile21=
NM_001347856.2:c.63C>T	NP_001334785.1:p.Ile21=
NM_001347857.1:c.315C>T	NP_001334786.1:p.Ile105=
NM_001347857.2:c.315C>T	NP_001334786.1:p.Ile105=
NM_001347858.1:c.-166C>T	NP_001334787.1:n.-166C>T
NM_001347858.2:c.-166C>T	NP_001334787.1:n.-166C>T
NM_001347859.1:c.315C>T	NP_001334788.1:p.Ile105=
NM_001347859.2:c.315C>T	NP_001334788.1:p.Ile105=
NM_001347860.1:c.315C>T	NP_001334789.1:p.Ile105=
NM_001347860.2:c.315C>T	NP_001334789.1:p.Ile105=
NM_001347861.1:c.315C>T	NP_001334790.1:p.Ile105=
NM_001347861.2:c.315C>T	NP_001334790.1:p.Ile105=
NM_006459.3:c.315C>T	NP_006450.2:p.Ile105=
NR_144755.1:n.340C>T
NR_144755.2:n.312C>T
NR_144756.1:n.422C>T
NR_144756.2:n.394C>T
NR_144757.1:n.313C>T
NR_144757.2:n.285C>T
NR_144758.1:n.422C>T
NR_144758.2:n.394C>T
NR_144759.1:n.400C>T
NR_144759.2:n.452C>T
NR_144760.1:n.505C>T
NR_144760.2:n.557C>T
ENST00000370408.2:c.315C>T	ENSP00000359436.2:p.Ile105=
ENST00000407654.7:c.315C>T	ENSP00000384900.3:p.Ile105=
ENST00000421367.6:c.315C>T	ENSP00000410964.2:p.Ile105=
XM_005269442.2:c.315C>T	XP_005269499.1:p.Ile105=
XM_011539170.1:c.63C>T	XP_011537472.1:p.Ile21=
XM_011539171.1:c.315C>T	XP_011537473.1:p.Ile105=