Canonical Allele Identifier: CA2651006878

Gene: EGLN1 SPRTN

Linked Data

• gnomAD v4: 1-231370506-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370506G>T , CM000663.2:g.231370506G>T	GRCh38
NC_000001.10:g.231506252G>T , CM000663.1:g.231506252G>T	GRCh37
NC_000001.9:g.229572875G>T	NCBI36
NG_015865.1:g.59539C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.1148+56C>A (EGLN1) MANE Select	ENSP00000355601.3:n.1148+56C>A
ENST00000476717.2:n.425+56C>A (EGLN1)
ENST00000653198.1:n.690+56C>A
ENST00000653908.1:c.151-2870C>A	ENSP00000499669.1:n.151-2870C>A
ENST00000654803.1:c.370+56C>A (EGLN1)
ENST00000658954.1:c.522+56C>A (EGLN1)
ENST00000662216.1:c.287+56C>A	ENSP00000499467.1:n.287+56C>A
ENST00000663780.1:n.304C>A (EGLN1)
ENST00000667629.1:c.316-2870C>A (EGLN1)	ENSP00000499629.1:n.316-2870C>A
ENST00000670301.1:c.230-4031C>A (EGLN1)
ENST00000366641.3:c.1148+56C>A (EGLN1)	ENSP00000355601.3:n.1148+56C>A
ENST00000476717.1:n.425+56C>A (EGLN1)
NM_022051.2:c.1148+56C>A (EGLN1)	NP_071334.1:n.1148+56C>A
XM_005273166.3:c.1148+56C>A (EGLN1)	XP_005273223.1:n.1148+56C>A
XM_005273167.3:c.1012-2870C>A (EGLN1)	XP_005273224.1:n.1012-2870C>A
XM_005273284.2:c.*900G>T (SPRTN)	XP_005273341.1:n.*900G>T
XM_005273285.2:c.*900G>T (SPRTN)	XP_005273342.1:n.*900G>T
XM_005273166.5:c.1148+56C>A (EGLN1)	XP_005273223.1:n.1148+56C>A
XM_005273167.5:c.1012-2870C>A (EGLN1)	XP_005273224.1:n.1012-2870C>A
XM_024447734.1:c.1012-2870C>A (EGLN1)	XP_024303502.1:n.1012-2870C>A
NM_001377260.1:c.1148+56C>A (EGLN1)	NP_001364189.1:n.1148+56C>A
NM_001377261.1:c.1012-2870C>A (EGLN1)	NP_001364190.1:n.1012-2870C>A
NM_022051.3:c.1148+56C>A (EGLN1) MANE Select	NP_071334.1:n.1148+56C>A