Canonical Allele Identifier: CA1453188
Gene: EGLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242640
dbSNP Id: rs12097901

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231421509C>G , CM000663.2:g.231421509C>G GRCh38
NC_000001.10:g.231557255C>G , CM000663.1:g.231557255C>G GRCh37
NC_000001.9:g.229623878C>G NCBI36
NG_015865.1:g.8536G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366641.4:c.380G>C MANE Select ENSP00000355601.3:p.Cys127Ser
ENST00000653198.1:n.433+40963G>C
ENST00000653908.1:c.30+40929G>C ENSP00000499669.1:n.30+40929G>C
ENST00000662216.1:c.30+40929G>C ENSP00000499467.1:n.30+40929G>C
ENST00000366641.3:c.380G>C ENSP00000355601.3:p.Cys127Ser
NM_022051.2:c.380G>C NP_071334.1:p.Cys127Ser
XM_005273166.3:c.380G>C XP_005273223.1:p.Cys127Ser
XM_005273167.3:c.380G>C XP_005273224.1:p.Cys127Ser
XM_005273166.5:c.380G>C XP_005273223.1:p.Cys127Ser
XM_005273167.5:c.380G>C XP_005273224.1:p.Cys127Ser
XM_024447734.1:c.380G>C XP_024303502.1:p.Cys127Ser
NM_001377260.1:c.380G>C NP_001364189.1:p.Cys127Ser
NM_001377261.1:c.380G>C NP_001364190.1:p.Cys127Ser
NM_022051.3:c.380G>C MANE Select NP_071334.1:p.Cys127Ser