Canonical Allele Identifier: CA1717347702

Gene: ELN ELN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74060184C= , CM000669.2:g.74060184C=	GRCh38
NC_000007.13:g.73474514C= , CM000669.1:g.73474514C=	GRCh37
NC_000007.12:g.73112450C=	NCBI36
NG_009261.1:g.37088C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000501.4:c.1621C= (ELN) MANE Select	NP_000492.2:p.Arg541=
ENST00000252034.12:c.1621C= (ELN) MANE Select	ENSP00000252034.7:p.Arg541=
NM_000501.3:c.1621C= (ELN)	NP_000492.2:p.Arg541=
NM_001081752.2:c.1534C= (ELN)	NP_001075221.1:p.Arg512=
NM_001081752.3:c.1534C= (ELN)	NP_001075221.1:p.Arg512=
NM_001081753.2:c.1579C= (ELN)	NP_001075222.1:p.Arg527=
NM_001081753.3:c.1579C= (ELN)	NP_001075222.1:p.Arg527=
NM_001081754.2:c.1636C= (ELN)	NP_001075223.1:p.Arg546=
NM_001081754.3:c.1636C= (ELN)	NP_001075223.1:p.Arg546=
NM_001081755.2:c.1564C= (ELN)	NP_001075224.1:p.Arg522=
NM_001081755.3:c.1564C= (ELN)	NP_001075224.1:p.Arg522=
NM_001278912.1:c.1621C= (ELN)	NP_001265841.1:p.Arg541=
NM_001278912.2:c.1621C= (ELN)	NP_001265841.1:p.Arg541=
NM_001278913.1:c.1378C= (ELN)	NP_001265842.1:p.Arg460=
NM_001278913.2:c.1378C= (ELN)	NP_001265842.1:p.Arg460=
NM_001278914.1:c.1549C= (ELN)	NP_001265843.1:p.Arg517=
NM_001278914.2:c.1549C= (ELN)	NP_001265843.1:p.Arg517=
NM_001278915.1:c.1639C= (ELN)	NP_001265844.1:p.Arg547=
NM_001278915.2:c.1639C= (ELN)	NP_001265844.1:p.Arg547=
NM_001278916.1:c.1477+137C= (ELN)	NP_001265845.1:n.1477+137C=
NM_001278916.2:c.1477+137C= (ELN)	NP_001265845.1:n.1477+137C=
NM_001278917.1:c.1591C= (ELN)	NP_001265846.1:p.Arg531=
NM_001278917.2:c.1591C= (ELN)	NP_001265846.1:p.Arg531=
NM_001278918.1:c.1354C= (ELN)	NP_001265847.1:p.Arg452=
NM_001278918.2:c.1354C= (ELN)	NP_001265847.1:p.Arg452=
NM_001278939.1:c.1708C= (ELN)	NP_001265868.1:p.Arg570=
NM_001278939.2:c.1708C= (ELN)	NP_001265868.1:p.Arg570=
ENST00000252034.11:c.1621C= (ELN)	ENSP00000252034.7:p.Arg541=
ENST00000320399.10:c.1621C= (ELN)	ENSP00000313565.6:p.Arg541=
ENST00000320492.11:c.1378C= (ELN)	ENSP00000315607.7:p.Arg460=
ENST00000357036.9:c.1636C= (ELN)	ENSP00000349540.5:p.Arg546=
ENST00000358929.8:c.1708C= (ELN)	ENSP00000351807.5:p.Arg570=
ENST00000380553.8:c.1213C= (ELN)	ENSP00000369926.4:p.Arg405=
ENST00000380562.8:c.1639C= (ELN)	ENSP00000369936.4:p.Arg547=
ENST00000380575.8:c.1534C= (ELN)	ENSP00000369949.4:p.Arg512=
ENST00000380576.9:c.1564C= (ELN)	ENSP00000369950.5:p.Arg522=
ENST00000380584.8:c.1477+137C= (ELN)	ENSP00000369958.4:n.1477+137C=
ENST00000414324.5:c.1549C= (ELN)	ENSP00000392575.1:p.Arg517=
ENST00000429192.5:c.1579C= (ELN)	ENSP00000391129.1:p.Arg527=
ENST00000445912.5:c.1621C= (ELN)	ENSP00000389857.1:p.Arg541=
ENST00000458204.5:c.1591C= (ELN)	ENSP00000403162.1:p.Arg531=
ENST00000621115.4:c.1354C= (ELN)	ENSP00000480955.1:p.Arg452=
ENST00000692049.1:c.1708C= (ELN)	ENSP00000510104.1:p.Arg570=
XM_005250187.1:c.1585C= (ELN)	XP_005250244.1:p.Arg529=
XM_005250187.2:c.1585C= (ELN)	XP_005250244.1:p.Arg529=
XM_005250188.1:c.1579C= (ELN)	XP_005250245.1:p.Arg527=
XM_005250188.2:c.1579C= (ELN)	XP_005250245.1:p.Arg527=
XM_011515868.1:c.1636C= (ELN)	XP_011514170.1:p.Arg546=
XM_011515868.2:c.1636C= (ELN)	XP_011514170.1:p.Arg546=
XM_011515869.1:c.1606C= (ELN)	XP_011514171.1:p.Arg536=
XM_011515870.1:c.1600C= (ELN)	XP_011514172.1:p.Arg534=
XM_011515871.1:c.1594C= (ELN)	XP_011514173.1:p.Arg532=
XM_011515871.2:c.1594C= (ELN)	XP_011514173.1:p.Arg532=
XM_011515872.1:c.1582C= (ELN)	XP_011514174.1:p.Arg528=
XM_011515872.2:c.1582C= (ELN)	XP_011514174.1:p.Arg528=
XM_011515873.1:c.1579C= (ELN)	XP_011514175.1:p.Arg527=
XM_011515873.2:c.1579C= (ELN)	XP_011514175.1:p.Arg527=
XM_011515874.1:c.1570C= (ELN)	XP_011514176.1:p.Arg524=
XM_011515875.1:c.1555C= (ELN)	XP_011514177.1:p.Arg519=
XM_011515875.2:c.1555C= (ELN)	XP_011514177.1:p.Arg519=
XM_011515876.1:c.1636C= (ELN)	XP_011514178.1:p.Arg546=
XM_011515876.2:c.1636C= (ELN)	XP_011514178.1:p.Arg546=
XM_011515877.1:c.1525C= (ELN)	XP_011514179.1:p.Arg509=
XM_011515877.2:c.1525C= (ELN)	XP_011514179.1:p.Arg509=
XM_017011813.1:c.1549C= (ELN)	XP_016867302.1:p.Arg517=
XM_017011814.2:c.1537C= (ELN)	XP_016867303.1:p.Arg513=
XR_001745243.1:n.76-152G= (ELN-AS1)