Canonical Allele Identifier: CA5646024

Gene: ERLIN1

Linked Data

• ClinVar Variation Id: 1081411
• ClinVar RCV Id: RCV001397366
• dbSNP Id: rs762266742
• ExAC: 10:101915969 C / G
• gnomAD v2: 10-101915969-C-G
• gnomAD v3: 10-100156212-C-G
• gnomAD v4: 10-100156212-C-G
• MyVariant Identifiers: chr10:g.101915969C>G (hg19) ; chr10:g.100156212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100156212C>G , CM000672.2:g.100156212C>G	GRCh38
NC_000010.10:g.101915969C>G , CM000672.1:g.101915969C>G	GRCh37
NC_000010.9:g.101905959C>G	NCBI36
NG_052910.1:g.34846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421367.7:c.678G>C MANE Select	ENSP00000410964.2:p.Val226=
ENST00000370408.2:c.678G>C	ENSP00000359436.2:p.Val226=
ENST00000407654.7:c.678G>C	ENSP00000384900.3:p.Val226=
ENST00000421367.6:c.678G>C	ENSP00000410964.2:p.Val226=
NM_001100626.1:c.678G>C	NP_001094096.1:p.Val226=
NM_006459.3:c.678G>C	NP_006450.2:p.Val226=
XM_005269442.2:c.678G>C	XP_005269499.1:p.Val226=
XM_011539170.1:c.426G>C	XP_011537472.1:p.Val142=
XM_011539171.1:c.*69G>C	XP_011537473.1:n.*69G>C
NM_001347856.1:c.426G>C	NP_001334785.1:p.Val142=
NM_001347857.1:c.678G>C	NP_001334786.1:p.Val226=
NM_001347858.1:c.198G>C	NP_001334787.1:p.Val66=
NM_001347859.1:c.678G>C	NP_001334788.1:p.Val226=
NM_001347860.1:c.678G>C	NP_001334789.1:p.Val226=
NM_001347861.1:c.678G>C	NP_001334790.1:p.Val226=
NR_144755.1:n.775G>C
NR_144756.1:n.726G>C
NR_144757.1:n.748G>C
NR_144758.1:n.857G>C
NR_144759.1:n.835G>C
NR_144760.1:n.809G>C
NM_006459.4:c.678G>C MANE Select	NP_006450.2:p.Val226=
NM_001100626.2:c.678G>C	NP_001094096.1:p.Val226=
NM_001347856.2:c.426G>C	NP_001334785.1:p.Val142=
NM_001347857.2:c.678G>C	NP_001334786.1:p.Val226=
NM_001347858.2:c.198G>C	NP_001334787.1:p.Val66=
NM_001347859.2:c.678G>C	NP_001334788.1:p.Val226=
NM_001347860.2:c.678G>C	NP_001334789.1:p.Val226=
NM_001347861.2:c.678G>C	NP_001334790.1:p.Val226=
NR_144755.2:n.747G>C
NR_144756.2:n.698G>C
NR_144757.2:n.720G>C
NR_144758.2:n.829G>C
NR_144759.2:n.887G>C
NR_144760.2:n.861G>C