Canonical Allele Identifier: CA281478

Gene: ELN ELN-AS1

Linked Data

• ClinVar Variation Id: 163396
• ClinVar RCV Id: RCV000150644
• dbSNP Id: rs727503033
• MyVariant Identifiers: chr7:g.73475468T>A (hg19) ; chr7:g.74061138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74061138T>A , CM000669.2:g.74061138T>A	GRCh38
NC_000007.13:g.73475468T>A , CM000669.1:g.73475468T>A	GRCh37
NC_000007.12:g.73113404T>A	NCBI36
NG_009261.1:g.38042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1971T>A (ELN)	ENSP00000510104.1:p.Tyr657Ter
ENST00000252034.12:c.1785T>A (ELN) MANE Select	ENSP00000252034.7:p.Tyr595Ter
ENST00000252034.11:c.1785T>A (ELN)	ENSP00000252034.7:p.Tyr595Ter
ENST00000320399.10:c.1884T>A (ELN)	ENSP00000313565.6:p.Tyr628Ter
ENST00000320492.11:c.1542T>A (ELN)	ENSP00000315607.7:p.Tyr514Ter
ENST00000357036.9:c.1800T>A (ELN)	ENSP00000349540.5:p.Tyr600Ter
ENST00000358929.8:c.1971T>A (ELN)	ENSP00000351807.5:p.Tyr657Ter
ENST00000380553.8:c.1377T>A (ELN)	ENSP00000369926.4:p.Tyr459Ter
ENST00000380562.8:c.1803T>A (ELN)	ENSP00000369936.4:p.Tyr601Ter
ENST00000380575.8:c.1698T>A (ELN)	ENSP00000369949.4:p.Tyr566Ter
ENST00000380576.9:c.1728T>A (ELN)	ENSP00000369950.5:p.Tyr576Ter
ENST00000380584.8:c.1641T>A (ELN)	ENSP00000369958.4:p.Tyr547Ter
ENST00000414324.5:c.1713T>A (ELN)	ENSP00000392575.1:p.Tyr571Ter
ENST00000429192.5:c.1743T>A (ELN)	ENSP00000391129.1:p.Tyr581Ter
ENST00000445912.5:c.1785T>A (ELN)	ENSP00000389857.1:p.Tyr595Ter
ENST00000458204.5:c.1755T>A (ELN)	ENSP00000403162.1:p.Tyr585Ter
ENST00000621115.4:c.1518T>A (ELN)	ENSP00000480955.1:p.Tyr506Ter
NM_000501.3:c.1785T>A (ELN)	NP_000492.2:p.Tyr595Ter
NM_001081752.2:c.1698T>A (ELN)	NP_001075221.1:p.Tyr566Ter
NM_001081753.2:c.1743T>A (ELN)	NP_001075222.1:p.Tyr581Ter
NM_001081754.2:c.1800T>A (ELN)	NP_001075223.1:p.Tyr600Ter
NM_001081755.2:c.1728T>A (ELN)	NP_001075224.1:p.Tyr576Ter
NM_001278912.1:c.1785T>A (ELN)	NP_001265841.1:p.Tyr595Ter
NM_001278913.1:c.1542T>A (ELN)	NP_001265842.1:p.Tyr514Ter
NM_001278914.1:c.1713T>A (ELN)	NP_001265843.1:p.Tyr571Ter
NM_001278915.1:c.1803T>A (ELN)	NP_001265844.1:p.Tyr601Ter
NM_001278916.1:c.1641T>A (ELN)	NP_001265845.1:p.Tyr547Ter
NM_001278917.1:c.1755T>A (ELN)	NP_001265846.1:p.Tyr585Ter
NM_001278918.1:c.1518T>A (ELN)	NP_001265847.1:p.Tyr506Ter
NM_001278939.1:c.1971T>A (ELN)	NP_001265868.1:p.Tyr657Ter
XM_005250187.1:c.1749T>A (ELN)	XP_005250244.1:p.Tyr583Ter
XM_005250188.1:c.1743T>A (ELN)	XP_005250245.1:p.Tyr581Ter
XM_011515868.1:c.1800T>A (ELN)	XP_011514170.1:p.Tyr600Ter
XM_011515869.1:c.1770T>A (ELN)	XP_011514171.1:p.Tyr590Ter
XM_011515870.1:c.1764T>A (ELN)	XP_011514172.1:p.Tyr588Ter
XM_011515871.1:c.1758T>A (ELN)	XP_011514173.1:p.Tyr586Ter
XM_011515872.1:c.1746T>A (ELN)	XP_011514174.1:p.Tyr582Ter
XM_011515873.1:c.1743T>A (ELN)	XP_011514175.1:p.Tyr581Ter
XM_011515874.1:c.1734T>A (ELN)	XP_011514176.1:p.Tyr578Ter
XM_011515875.1:c.1719T>A (ELN)	XP_011514177.1:p.Tyr573Ter
XM_011515876.1:c.1800T>A (ELN)	XP_011514178.1:p.Tyr600Ter
XM_011515877.1:c.1689T>A (ELN)	XP_011514179.1:p.Tyr563Ter
XM_005250187.2:c.1749T>A (ELN)	XP_005250244.1:p.Tyr583Ter
XM_005250188.2:c.1743T>A (ELN)	XP_005250245.1:p.Tyr581Ter
XM_011515868.2:c.1800T>A (ELN)	XP_011514170.1:p.Tyr600Ter
XM_011515871.2:c.1758T>A (ELN)	XP_011514173.1:p.Tyr586Ter
XM_011515872.2:c.1746T>A (ELN)	XP_011514174.1:p.Tyr582Ter
XM_011515873.2:c.1743T>A (ELN)	XP_011514175.1:p.Tyr581Ter
XM_011515875.2:c.1719T>A (ELN)	XP_011514177.1:p.Tyr573Ter
XM_011515876.2:c.1800T>A (ELN)	XP_011514178.1:p.Tyr600Ter
XM_011515877.2:c.1689T>A (ELN)	XP_011514179.1:p.Tyr563Ter
XM_017011813.1:c.1713T>A (ELN)	XP_016867302.1:p.Tyr571Ter
XM_017011814.2:c.1701T>A (ELN)	XP_016867303.1:p.Tyr567Ter
XR_001745243.1:n.75+1072A>T (ELN-AS1)
NM_000501.4:c.1785T>A (ELN) MANE Select	NP_000492.2:p.Tyr595Ter
NM_001081752.3:c.1698T>A (ELN)	NP_001075221.1:p.Tyr566Ter
NM_001081753.3:c.1743T>A (ELN)	NP_001075222.1:p.Tyr581Ter
NM_001081754.3:c.1800T>A (ELN)	NP_001075223.1:p.Tyr600Ter
NM_001081755.3:c.1728T>A (ELN)	NP_001075224.1:p.Tyr576Ter
NM_001278912.2:c.1785T>A (ELN)	NP_001265841.1:p.Tyr595Ter
NM_001278913.2:c.1542T>A (ELN)	NP_001265842.1:p.Tyr514Ter
NM_001278914.2:c.1713T>A (ELN)	NP_001265843.1:p.Tyr571Ter
NM_001278915.2:c.1803T>A (ELN)	NP_001265844.1:p.Tyr601Ter
NM_001278916.2:c.1641T>A (ELN)	NP_001265845.1:p.Tyr547Ter
NM_001278917.2:c.1755T>A (ELN)	NP_001265846.1:p.Tyr585Ter
NM_001278918.2:c.1518T>A (ELN)	NP_001265847.1:p.Tyr506Ter
NM_001278939.2:c.1971T>A (ELN)	NP_001265868.1:p.Tyr657Ter