Canonical Allele Identifier: CA10576346
Gene: ERLIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 226427
ClinVar RCV Id: RCV000211706
dbSNP Id: rs876661322
MyVariant Identifiers: chr10:g.101943559C>A (hg19) chr10:g.100183802C>A (hg38)
PubMed: PMID:24482476
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100183802C>A , CM000672.2:g.100183802C>A GRCh38
NC_000010.10:g.101943559C>A , CM000672.1:g.101943559C>A GRCh37
NC_000010.9:g.101933549C>A NCBI36
NG_052910.1:g.7256G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000421367.7:c.149G>T MANE Select ENSP00000410964.2:p.Gly50Val
ENST00000370408.2:c.149G>T ENSP00000359436.2:p.Gly50Val
ENST00000407654.7:c.149G>T ENSP00000384900.3:p.Gly50Val
ENST00000421367.6:c.149G>T ENSP00000410964.2:p.Gly50Val
NM_001100626.1:c.149G>T NP_001094096.1:p.Gly50Val
NM_006459.3:c.149G>T NP_006450.2:p.Gly50Val
XM_005269442.2:c.149G>T XP_005269499.1:p.Gly50Val
XM_011539170.1:c.-58+1712G>T XP_011537472.1:n.-58+1712G>T
XM_011539171.1:c.149G>T XP_011537473.1:p.Gly50Val
NM_001347856.1:c.-58+1712G>T NP_001334785.1:n.-58+1712G>T
NM_001347857.1:c.149G>T NP_001334786.1:p.Gly50Val
NM_001347858.1:c.-223G>T NP_001334787.1:n.-223G>T
NM_001347859.1:c.149G>T NP_001334788.1:p.Gly50Val
NM_001347860.1:c.149G>T NP_001334789.1:p.Gly50Val
NM_001347861.1:c.149G>T NP_001334790.1:p.Gly50Val
NR_144755.1:n.220+1712G>T
NR_144756.1:n.256G>T
NR_144757.1:n.256G>T
NR_144758.1:n.256G>T
NR_144759.1:n.234G>T
NR_144760.1:n.339G>T
NM_006459.4:c.149G>T MANE Select NP_006450.2:p.Gly50Val
NM_001100626.2:c.149G>T NP_001094096.1:p.Gly50Val
NM_001347856.2:c.-58+1712G>T NP_001334785.1:n.-58+1712G>T
NM_001347857.2:c.149G>T NP_001334786.1:p.Gly50Val
NM_001347858.2:c.-223G>T NP_001334787.1:n.-223G>T
NM_001347859.2:c.149G>T NP_001334788.1:p.Gly50Val
NM_001347860.2:c.149G>T NP_001334789.1:p.Gly50Val
NM_001347861.2:c.149G>T NP_001334790.1:p.Gly50Val
NR_144755.2:n.192+1712G>T
NR_144756.2:n.228G>T
NR_144757.2:n.228G>T
NR_144758.2:n.228G>T
NR_144759.2:n.286G>T
NR_144760.2:n.391G>T
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