Canonical Allele Identifier: CA345239701

Gene: EGLN1

Linked Data

• gnomAD v3: 1-231421888-T-G
• gnomAD v4: 1-231421888-T-G
• MyVariant Identifiers: chr1:g.231557634T>G (hg19) ; chr1:g.231421888T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231421888T>G , CM000663.2:g.231421888T>G	GRCh38
NC_000001.10:g.231557634T>G , CM000663.1:g.231557634T>G	GRCh37
NC_000001.9:g.229624257T>G	NCBI36
NG_015865.1:g.8157A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.1A>C MANE Select	ENSP00000355601.3:p.Met1Leu
ENST00000653198.1:n.433+40584A>C
ENST00000653908.1:c.30+40550A>C	ENSP00000499669.1:n.30+40550A>C
ENST00000662216.1:c.30+40550A>C	ENSP00000499467.1:n.30+40550A>C
ENST00000366641.3:c.1A>C	ENSP00000355601.3:p.Met1Leu
NM_022051.2:c.1A>C	NP_071334.1:p.Met1Leu
XM_005273166.3:c.1A>C	XP_005273223.1:p.Met1Leu
XM_005273167.3:c.1A>C	XP_005273224.1:p.Met1Leu
XM_005273166.5:c.1A>C	XP_005273223.1:p.Met1Leu
XM_005273167.5:c.1A>C	XP_005273224.1:p.Met1Leu
XM_024447734.1:c.1A>C	XP_024303502.1:p.Met1Leu
NM_001377260.1:c.1A>C	NP_001364189.1:p.Met1Leu
NM_001377261.1:c.1A>C	NP_001364190.1:p.Met1Leu
NM_022051.3:c.1A>C MANE Select	NP_071334.1:p.Met1Leu