Canonical Allele Identifier: CA5645963

Gene: ERLIN1

Linked Data

• ClinVar Variation Id: 1344327
• ClinVar RCV Id: RCV001848430 ; RCV004038701
• dbSNP Id: rs756772947
• ExAC: 10:101912042 T / C
• gnomAD v2: 10-101912042-T-C
• gnomAD v4: 10-100152285-T-C
• MyVariant Identifiers: chr10:g.101912042T>C (hg19) ; chr10:g.100152285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100152285T>C , CM000672.2:g.100152285T>C	GRCh38
NC_000010.10:g.101912042T>C , CM000672.1:g.101912042T>C	GRCh37
NC_000010.9:g.101902032T>C	NCBI36
NG_052910.1:g.38773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421367.7:c.893A>G MANE Select	ENSP00000410964.2:p.Tyr298Cys
ENST00000407654.7:c.893A>G	ENSP00000384900.3:p.Tyr298Cys
ENST00000421367.6:c.893A>G	ENSP00000410964.2:p.Tyr298Cys
NM_001100626.1:c.893A>G	NP_001094096.1:p.Tyr298Cys
NM_006459.3:c.893A>G	NP_006450.2:p.Tyr298Cys
XM_005269442.2:c.893A>G	XP_005269499.1:p.Tyr298Cys
XM_011539170.1:c.641A>G	XP_011537472.1:p.Tyr214Cys
NM_001347856.1:c.641A>G	NP_001334785.1:p.Tyr214Cys
NM_001347857.1:c.893A>G	NP_001334786.1:p.Tyr298Cys
NM_001347858.1:c.413A>G	NP_001334787.1:p.Tyr138Cys
NM_001347859.1:c.893A>G	NP_001334788.1:p.Tyr298Cys
NM_001347860.1:c.893A>G	NP_001334789.1:p.Tyr298Cys
NM_001347861.1:c.893A>G	NP_001334790.1:p.Tyr298Cys
NR_144755.1:n.990A>G
NR_144756.1:n.941A>G
NR_144757.1:n.963A>G
NR_144758.1:n.1072A>G
NR_144759.1:n.1050A>G
NR_144760.1:n.1024A>G
NM_006459.4:c.893A>G MANE Select	NP_006450.2:p.Tyr298Cys
NM_001100626.2:c.893A>G	NP_001094096.1:p.Tyr298Cys
NM_001347856.2:c.641A>G	NP_001334785.1:p.Tyr214Cys
NM_001347857.2:c.893A>G	NP_001334786.1:p.Tyr298Cys
NM_001347858.2:c.413A>G	NP_001334787.1:p.Tyr138Cys
NM_001347859.2:c.893A>G	NP_001334788.1:p.Tyr298Cys
NM_001347860.2:c.893A>G	NP_001334789.1:p.Tyr298Cys
NM_001347861.2:c.893A>G	NP_001334790.1:p.Tyr298Cys
NR_144755.2:n.962A>G
NR_144756.2:n.913A>G
NR_144757.2:n.935A>G
NR_144758.2:n.1044A>G
NR_144759.2:n.1102A>G
NR_144760.2:n.1076A>G