Canonical Allele Identifier: CA732768001

Gene: EGLN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231408034G>C , CM000663.2:g.231408034G>C	GRCh38
NC_000001.10:g.231543780G>C , CM000663.1:g.231543780G>C	GRCh37
NC_000001.9:g.229610403G>C	NCBI36
NG_015865.1:g.22011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.891+12964C>G MANE Select	ENSP00000355601.3:n.891+12964C>G
ENST00000476717.2:n.168+12142C>G
ENST00000653198.1:n.434-33935C>G
ENST00000653908.1:c.31-33935C>G	ENSP00000499669.1:n.31-33935C>G
ENST00000654803.1:c.113+12964C>G
ENST00000658954.1:c.265+12964C>G
ENST00000662216.1:c.31-33935C>G	ENSP00000499467.1:n.31-33935C>G
ENST00000667629.1:c.195+12964C>G	ENSP00000499629.1:n.195+12964C>G
ENST00000670301.1:c.229+12964C>G
ENST00000366641.3:c.891+12964C>G	ENSP00000355601.3:n.891+12964C>G
ENST00000476717.1:n.168+12142C>G
NM_022051.2:c.891+12964C>G	NP_071334.1:n.891+12964C>G
XM_005273166.3:c.891+12964C>G	XP_005273223.1:n.891+12964C>G
XM_005273167.3:c.891+12964C>G	XP_005273224.1:n.891+12964C>G
XM_005273166.5:c.891+12964C>G	XP_005273223.1:n.891+12964C>G
XM_005273167.5:c.891+12964C>G	XP_005273224.1:n.891+12964C>G
XM_024447734.1:c.891+12964C>G	XP_024303502.1:n.891+12964C>G
NM_001377260.1:c.891+12964C>G	NP_001364189.1:n.891+12964C>G
NM_001377261.1:c.891+12964C>G	NP_001364190.1:n.891+12964C>G
NM_022051.3:c.891+12964C>G MANE Select	NP_071334.1:n.891+12964C>G