Canonical Allele Identifier: CA4293210

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74061120C>T , CM000669.2:g.74061120C>T GRCh38
NC_000007.13:g.73475450C>T , CM000669.1:g.73475450C>T GRCh37
NC_000007.12:g.73113386C>T NCBI36
NG_009261.1:g.38024C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1953C>T (ELN) ENSP00000510104.1:p.Ala651=
ENST00000252034.12:c.1767C>T (ELN) MANE Select ENSP00000252034.7:p.Ala589=
ENST00000252034.11:c.1767C>T (ELN) ENSP00000252034.7:p.Ala589=
ENST00000320399.10:c.1866C>T (ELN) ENSP00000313565.6:p.Ala622=
ENST00000320492.11:c.1524C>T (ELN) ENSP00000315607.7:p.Ala508=
ENST00000357036.9:c.1782C>T (ELN) ENSP00000349540.5:p.Ala594=
ENST00000358929.8:c.1953C>T (ELN) ENSP00000351807.5:p.Ala651=
ENST00000380553.8:c.1359C>T (ELN) ENSP00000369926.4:p.Ala453=
ENST00000380562.8:c.1785C>T (ELN) ENSP00000369936.4:p.Ala595=
ENST00000380575.8:c.1680C>T (ELN) ENSP00000369949.4:p.Ala560=
ENST00000380576.9:c.1710C>T (ELN) ENSP00000369950.5:p.Ala570=
ENST00000380584.8:c.1623C>T (ELN) ENSP00000369958.4:p.Ala541=
ENST00000414324.5:c.1695C>T (ELN) ENSP00000392575.1:p.Ala565=
ENST00000429192.5:c.1725C>T (ELN) ENSP00000391129.1:p.Ala575=
ENST00000445912.5:c.1767C>T (ELN) ENSP00000389857.1:p.Ala589=
ENST00000458204.5:c.1737C>T (ELN) ENSP00000403162.1:p.Ala579=
ENST00000621115.4:c.1500C>T (ELN) ENSP00000480955.1:p.Ala500=
NM_000501.3:c.1767C>T (ELN) NP_000492.2:p.Ala589=
NM_001081752.2:c.1680C>T (ELN) NP_001075221.1:p.Ala560=
NM_001081753.2:c.1725C>T (ELN) NP_001075222.1:p.Ala575=
NM_001081754.2:c.1782C>T (ELN) NP_001075223.1:p.Ala594=
NM_001081755.2:c.1710C>T (ELN) NP_001075224.1:p.Ala570=
NM_001278912.1:c.1767C>T (ELN) NP_001265841.1:p.Ala589=
NM_001278913.1:c.1524C>T (ELN) NP_001265842.1:p.Ala508=
NM_001278914.1:c.1695C>T (ELN) NP_001265843.1:p.Ala565=
NM_001278915.1:c.1785C>T (ELN) NP_001265844.1:p.Ala595=
NM_001278916.1:c.1623C>T (ELN) NP_001265845.1:p.Ala541=
NM_001278917.1:c.1737C>T (ELN) NP_001265846.1:p.Ala579=
NM_001278918.1:c.1500C>T (ELN) NP_001265847.1:p.Ala500=
NM_001278939.1:c.1953C>T (ELN) NP_001265868.1:p.Ala651=
XM_005250187.1:c.1731C>T (ELN) XP_005250244.1:p.Ala577=
XM_005250188.1:c.1725C>T (ELN) XP_005250245.1:p.Ala575=
XM_011515868.1:c.1782C>T (ELN) XP_011514170.1:p.Ala594=
XM_011515869.1:c.1752C>T (ELN) XP_011514171.1:p.Ala584=
XM_011515870.1:c.1746C>T (ELN) XP_011514172.1:p.Ala582=
XM_011515871.1:c.1740C>T (ELN) XP_011514173.1:p.Ala580=
XM_011515872.1:c.1728C>T (ELN) XP_011514174.1:p.Ala576=
XM_011515873.1:c.1725C>T (ELN) XP_011514175.1:p.Ala575=
XM_011515874.1:c.1716C>T (ELN) XP_011514176.1:p.Ala572=
XM_011515875.1:c.1701C>T (ELN) XP_011514177.1:p.Ala567=
XM_011515876.1:c.1782C>T (ELN) XP_011514178.1:p.Ala594=
XM_011515877.1:c.1671C>T (ELN) XP_011514179.1:p.Ala557=
XM_005250187.2:c.1731C>T (ELN) XP_005250244.1:p.Ala577=
XM_005250188.2:c.1725C>T (ELN) XP_005250245.1:p.Ala575=
XM_011515868.2:c.1782C>T (ELN) XP_011514170.1:p.Ala594=
XM_011515871.2:c.1740C>T (ELN) XP_011514173.1:p.Ala580=
XM_011515872.2:c.1728C>T (ELN) XP_011514174.1:p.Ala576=
XM_011515873.2:c.1725C>T (ELN) XP_011514175.1:p.Ala575=
XM_011515875.2:c.1701C>T (ELN) XP_011514177.1:p.Ala567=
XM_011515876.2:c.1782C>T (ELN) XP_011514178.1:p.Ala594=
XM_011515877.2:c.1671C>T (ELN) XP_011514179.1:p.Ala557=
XM_017011813.1:c.1695C>T (ELN) XP_016867302.1:p.Ala565=
XM_017011814.2:c.1683C>T (ELN) XP_016867303.1:p.Ala561=
XR_001745243.1:n.76-1088G>A (ELN-AS1)
NM_000501.4:c.1767C>T (ELN) MANE Select NP_000492.2:p.Ala589=
NM_001081752.3:c.1680C>T (ELN) NP_001075221.1:p.Ala560=
NM_001081753.3:c.1725C>T (ELN) NP_001075222.1:p.Ala575=
NM_001081754.3:c.1782C>T (ELN) NP_001075223.1:p.Ala594=
NM_001081755.3:c.1710C>T (ELN) NP_001075224.1:p.Ala570=
NM_001278912.2:c.1767C>T (ELN) NP_001265841.1:p.Ala589=
NM_001278913.2:c.1524C>T (ELN) NP_001265842.1:p.Ala508=
NM_001278914.2:c.1695C>T (ELN) NP_001265843.1:p.Ala565=
NM_001278915.2:c.1785C>T (ELN) NP_001265844.1:p.Ala595=
NM_001278916.2:c.1623C>T (ELN) NP_001265845.1:p.Ala541=
NM_001278917.2:c.1737C>T (ELN) NP_001265846.1:p.Ala579=
NM_001278918.2:c.1500C>T (ELN) NP_001265847.1:p.Ala500=
NM_001278939.2:c.1953C>T (ELN) NP_001265868.1:p.Ala651=