Canonical Allele Identifier: CA367889442

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73477522T>A (hg19) ; chr7:g.74063192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063192T>A , CM000669.2:g.74063192T>A	GRCh38
NC_000007.13:g.73477522T>A , CM000669.1:g.73477522T>A	GRCh37
NC_000007.12:g.73115458T>A	NCBI36
NG_009261.1:g.40096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2012T>A	ENSP00000510104.1:p.Leu671His
ENST00000252034.12:c.1826T>A MANE Select	ENSP00000252034.7:p.Leu609His
ENST00000252034.11:c.1826T>A	ENSP00000252034.7:p.Leu609His
ENST00000320399.10:c.1925T>A	ENSP00000313565.6:p.Leu642His
ENST00000320492.11:c.1583T>A	ENSP00000315607.7:p.Leu528His
ENST00000357036.9:c.1841T>A	ENSP00000349540.5:p.Leu614His
ENST00000358929.8:c.2012T>A	ENSP00000351807.5:p.Leu671His
ENST00000380553.8:c.1418T>A	ENSP00000369926.4:p.Leu473His
ENST00000380562.8:c.1844T>A	ENSP00000369936.4:p.Leu615His
ENST00000380575.8:c.1739T>A	ENSP00000369949.4:p.Leu580His
ENST00000380576.9:c.1769T>A	ENSP00000369950.5:p.Leu590His
ENST00000380584.8:c.1682T>A	ENSP00000369958.4:p.Leu561His
ENST00000414324.5:c.1754T>A	ENSP00000392575.1:p.Leu585His
ENST00000429192.5:c.1784T>A	ENSP00000391129.1:p.Leu595His
ENST00000445912.5:c.1826T>A	ENSP00000389857.1:p.Leu609His
ENST00000458204.5:c.1796T>A	ENSP00000403162.1:p.Leu599His
ENST00000621115.4:c.1559T>A	ENSP00000480955.1:p.Leu520His
NM_000501.3:c.1826T>A	NP_000492.2:p.Leu609His
NM_001081752.2:c.1739T>A	NP_001075221.1:p.Leu580His
NM_001081753.2:c.1784T>A	NP_001075222.1:p.Leu595His
NM_001081754.2:c.1841T>A	NP_001075223.1:p.Leu614His
NM_001081755.2:c.1769T>A	NP_001075224.1:p.Leu590His
NM_001278912.1:c.1826T>A	NP_001265841.1:p.Leu609His
NM_001278913.1:c.1583T>A	NP_001265842.1:p.Leu528His
NM_001278914.1:c.1754T>A	NP_001265843.1:p.Leu585His
NM_001278915.1:c.1844T>A	NP_001265844.1:p.Leu615His
NM_001278916.1:c.1682T>A	NP_001265845.1:p.Leu561His
NM_001278917.1:c.1796T>A	NP_001265846.1:p.Leu599His
NM_001278918.1:c.1559T>A	NP_001265847.1:p.Leu520His
NM_001278939.1:c.2012T>A	NP_001265868.1:p.Leu671His
XM_005250187.1:c.1790T>A	XP_005250244.1:p.Leu597His
XM_005250188.1:c.1784T>A	XP_005250245.1:p.Leu595His
XM_011515868.1:c.1841T>A	XP_011514170.1:p.Leu614His
XM_011515869.1:c.1811T>A	XP_011514171.1:p.Leu604His
XM_011515870.1:c.1805T>A	XP_011514172.1:p.Leu602His
XM_011515871.1:c.1799T>A	XP_011514173.1:p.Leu600His
XM_011515872.1:c.1787T>A	XP_011514174.1:p.Leu596His
XM_011515873.1:c.1784T>A	XP_011514175.1:p.Leu595His
XM_011515874.1:c.1775T>A	XP_011514176.1:p.Leu592His
XM_011515875.1:c.1760T>A	XP_011514177.1:p.Leu587His
XM_011515876.1:c.1841T>A	XP_011514178.1:p.Leu614His
XM_011515877.1:c.1730T>A	XP_011514179.1:p.Leu577His
XM_005250187.2:c.1790T>A	XP_005250244.1:p.Leu597His
XM_005250188.2:c.1784T>A	XP_005250245.1:p.Leu595His
XM_011515868.2:c.1841T>A	XP_011514170.1:p.Leu614His
XM_011515871.2:c.1799T>A	XP_011514173.1:p.Leu600His
XM_011515872.2:c.1787T>A	XP_011514174.1:p.Leu596His
XM_011515873.2:c.1784T>A	XP_011514175.1:p.Leu595His
XM_011515875.2:c.1760T>A	XP_011514177.1:p.Leu587His
XM_011515876.2:c.1841T>A	XP_011514178.1:p.Leu614His
XM_011515877.2:c.1730T>A	XP_011514179.1:p.Leu577His
XM_017011813.1:c.1754T>A	XP_016867302.1:p.Leu585His
XM_017011814.2:c.1742T>A	XP_016867303.1:p.Leu581His
NM_000501.4:c.1826T>A MANE Select	NP_000492.2:p.Leu609His
NM_001081752.3:c.1739T>A	NP_001075221.1:p.Leu580His
NM_001081753.3:c.1784T>A	NP_001075222.1:p.Leu595His
NM_001081754.3:c.1841T>A	NP_001075223.1:p.Leu614His
NM_001081755.3:c.1769T>A	NP_001075224.1:p.Leu590His
NM_001278912.2:c.1826T>A	NP_001265841.1:p.Leu609His
NM_001278913.2:c.1583T>A	NP_001265842.1:p.Leu528His
NM_001278914.2:c.1754T>A	NP_001265843.1:p.Leu585His
NM_001278915.2:c.1844T>A	NP_001265844.1:p.Leu615His
NM_001278916.2:c.1682T>A	NP_001265845.1:p.Leu561His
NM_001278917.2:c.1796T>A	NP_001265846.1:p.Leu599His
NM_001278918.2:c.1559T>A	NP_001265847.1:p.Leu520His
NM_001278939.2:c.2012T>A	NP_001265868.1:p.Leu671His