Canonical Allele Identifier: CA455886403

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060494C>T , CM000669.2:g.74060494C>T GRCh38
NC_000007.13:g.73474824C>T , CM000669.1:g.73474824C>T GRCh37
NC_000007.12:g.73112760C>T NCBI36
NG_009261.1:g.37398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1827C>T (ELN) ENSP00000510104.1:p.Phe609=
ENST00000252034.12:c.1740C>T (ELN) MANE Select ENSP00000252034.7:p.Phe580=
ENST00000252034.11:c.1740C>T (ELN) ENSP00000252034.7:p.Phe580=
ENST00000320399.10:c.1740C>T (ELN) ENSP00000313565.6:p.Phe580=
ENST00000320492.11:c.1497C>T (ELN) ENSP00000315607.7:p.Phe499=
ENST00000357036.9:c.1755C>T (ELN) ENSP00000349540.5:p.Phe585=
ENST00000358929.8:c.1827C>T (ELN) ENSP00000351807.5:p.Phe609=
ENST00000380553.8:c.1332C>T (ELN) ENSP00000369926.4:p.Phe444=
ENST00000380562.8:c.1758C>T (ELN) ENSP00000369936.4:p.Phe586=
ENST00000380575.8:c.1653C>T (ELN) ENSP00000369949.4:p.Phe551=
ENST00000380576.9:c.1683C>T (ELN) ENSP00000369950.5:p.Phe561=
ENST00000380584.8:c.1596C>T (ELN) ENSP00000369958.4:p.Phe532=
ENST00000414324.5:c.1668C>T (ELN) ENSP00000392575.1:p.Phe556=
ENST00000429192.5:c.1698C>T (ELN) ENSP00000391129.1:p.Phe566=
ENST00000445912.5:c.1740C>T (ELN) ENSP00000389857.1:p.Phe580=
ENST00000458204.5:c.1710C>T (ELN) ENSP00000403162.1:p.Phe570=
ENST00000621115.4:c.1473C>T (ELN) ENSP00000480955.1:p.Phe491=
NM_000501.3:c.1740C>T (ELN) NP_000492.2:p.Phe580=
NM_001081752.2:c.1653C>T (ELN) NP_001075221.1:p.Phe551=
NM_001081753.2:c.1698C>T (ELN) NP_001075222.1:p.Phe566=
NM_001081754.2:c.1755C>T (ELN) NP_001075223.1:p.Phe585=
NM_001081755.2:c.1683C>T (ELN) NP_001075224.1:p.Phe561=
NM_001278912.1:c.1740C>T (ELN) NP_001265841.1:p.Phe580=
NM_001278913.1:c.1497C>T (ELN) NP_001265842.1:p.Phe499=
NM_001278914.1:c.1668C>T (ELN) NP_001265843.1:p.Phe556=
NM_001278915.1:c.1758C>T (ELN) NP_001265844.1:p.Phe586=
NM_001278916.1:c.1596C>T (ELN) NP_001265845.1:p.Phe532=
NM_001278917.1:c.1710C>T (ELN) NP_001265846.1:p.Phe570=
NM_001278918.1:c.1473C>T (ELN) NP_001265847.1:p.Phe491=
NM_001278939.1:c.1827C>T (ELN) NP_001265868.1:p.Phe609=
XM_005250187.1:c.1704C>T (ELN) XP_005250244.1:p.Phe568=
XM_005250188.1:c.1698C>T (ELN) XP_005250245.1:p.Phe566=
XM_011515868.1:c.1755C>T (ELN) XP_011514170.1:p.Phe585=
XM_011515869.1:c.1725C>T (ELN) XP_011514171.1:p.Phe575=
XM_011515870.1:c.1719C>T (ELN) XP_011514172.1:p.Phe573=
XM_011515871.1:c.1713C>T (ELN) XP_011514173.1:p.Phe571=
XM_011515872.1:c.1701C>T (ELN) XP_011514174.1:p.Phe567=
XM_011515873.1:c.1698C>T (ELN) XP_011514175.1:p.Phe566=
XM_011515874.1:c.1689C>T (ELN) XP_011514176.1:p.Phe563=
XM_011515875.1:c.1674C>T (ELN) XP_011514177.1:p.Phe558=
XM_011515876.1:c.1755C>T (ELN) XP_011514178.1:p.Phe585=
XM_011515877.1:c.1644C>T (ELN) XP_011514179.1:p.Phe548=
XM_005250187.2:c.1704C>T (ELN) XP_005250244.1:p.Phe568=
XM_005250188.2:c.1698C>T (ELN) XP_005250245.1:p.Phe566=
XM_011515868.2:c.1755C>T (ELN) XP_011514170.1:p.Phe585=
XM_011515871.2:c.1713C>T (ELN) XP_011514173.1:p.Phe571=
XM_011515872.2:c.1701C>T (ELN) XP_011514174.1:p.Phe567=
XM_011515873.2:c.1698C>T (ELN) XP_011514175.1:p.Phe566=
XM_011515875.2:c.1674C>T (ELN) XP_011514177.1:p.Phe558=
XM_011515876.2:c.1755C>T (ELN) XP_011514178.1:p.Phe585=
XM_011515877.2:c.1644C>T (ELN) XP_011514179.1:p.Phe548=
XM_017011813.1:c.1668C>T (ELN) XP_016867302.1:p.Phe556=
XM_017011814.2:c.1656C>T (ELN) XP_016867303.1:p.Phe552=
XR_001745243.1:n.76-462G>A (ELN-AS1)
NM_000501.4:c.1740C>T (ELN) MANE Select NP_000492.2:p.Phe580=
NM_001081752.3:c.1653C>T (ELN) NP_001075221.1:p.Phe551=
NM_001081753.3:c.1698C>T (ELN) NP_001075222.1:p.Phe566=
NM_001081754.3:c.1755C>T (ELN) NP_001075223.1:p.Phe585=
NM_001081755.3:c.1683C>T (ELN) NP_001075224.1:p.Phe561=
NM_001278912.2:c.1740C>T (ELN) NP_001265841.1:p.Phe580=
NM_001278913.2:c.1497C>T (ELN) NP_001265842.1:p.Phe499=
NM_001278914.2:c.1668C>T (ELN) NP_001265843.1:p.Phe556=
NM_001278915.2:c.1758C>T (ELN) NP_001265844.1:p.Phe586=
NM_001278916.2:c.1596C>T (ELN) NP_001265845.1:p.Phe532=
NM_001278917.2:c.1710C>T (ELN) NP_001265846.1:p.Phe570=
NM_001278918.2:c.1473C>T (ELN) NP_001265847.1:p.Phe491=
NM_001278939.2:c.1827C>T (ELN) NP_001265868.1:p.Phe609=