Canonical Allele Identifier: CA1453017

Gene: EGLN1

Linked Data

• dbSNP Id: rs752515902
• ExAC: 1:231506303 A / G
• gnomAD v2: 1-231506303-A-G
• gnomAD v3: 1-231370557-A-G
• gnomAD v4: 1-231370557-A-G
• MyVariant Identifiers: chr1:g.231506303A>G (hg19) ; chr1:g.231370557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370557A>G , CM000663.2:g.231370557A>G	GRCh38
NC_000001.10:g.231506303A>G , CM000663.1:g.231506303A>G	GRCh37
NC_000001.9:g.229572926A>G	NCBI36
NG_015865.1:g.59488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1148+5T>C MANE Select	ENSP00000355601.3:n.1148+5T>C
ENST00000476717.2:n.425+5T>C
ENST00000653198.1:n.690+5T>C
ENST00000653908.1:c.151-2921T>C	ENSP00000499669.1:n.151-2921T>C
ENST00000654803.1:c.370+5T>C
ENST00000658954.1:c.522+5T>C
ENST00000662216.1:c.287+5T>C	ENSP00000499467.1:n.287+5T>C
ENST00000663780.1:n.253T>C
ENST00000667629.1:c.316-2921T>C	ENSP00000499629.1:n.316-2921T>C
ENST00000670301.1:c.230-4082T>C
ENST00000366641.3:c.1148+5T>C	ENSP00000355601.3:n.1148+5T>C
ENST00000476717.1:n.425+5T>C
NM_022051.2:c.1148+5T>C	NP_071334.1:n.1148+5T>C
XM_005273166.3:c.1148+5T>C	XP_005273223.1:n.1148+5T>C
XM_005273167.3:c.1012-2921T>C	XP_005273224.1:n.1012-2921T>C
XM_005273166.5:c.1148+5T>C	XP_005273223.1:n.1148+5T>C
XM_005273167.5:c.1012-2921T>C	XP_005273224.1:n.1012-2921T>C
XM_024447734.1:c.1012-2921T>C	XP_024303502.1:n.1012-2921T>C
NM_001377260.1:c.1148+5T>C	NP_001364189.1:n.1148+5T>C
NM_001377261.1:c.1012-2921T>C	NP_001364190.1:n.1012-2921T>C
NM_022051.3:c.1148+5T>C MANE Select	NP_071334.1:n.1148+5T>C