Canonical Allele Identifier: CA4293154

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060428C>T , CM000669.2:g.74060428C>T GRCh38
NC_000007.13:g.73474758C>T , CM000669.1:g.73474758C>T GRCh37
NC_000007.12:g.73112694C>T NCBI36
NG_009261.1:g.37332C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1761C>T (ELN) ENSP00000510104.1:p.Gly587=
ENST00000252034.12:c.1674C>T (ELN) MANE Select ENSP00000252034.7:p.Gly558=
ENST00000252034.11:c.1674C>T (ELN) ENSP00000252034.7:p.Gly558=
ENST00000320399.10:c.1674C>T (ELN) ENSP00000313565.6:p.Gly558=
ENST00000320492.11:c.1431C>T (ELN) ENSP00000315607.7:p.Gly477=
ENST00000357036.9:c.1689C>T (ELN) ENSP00000349540.5:p.Gly563=
ENST00000358929.8:c.1761C>T (ELN) ENSP00000351807.5:p.Gly587=
ENST00000380553.8:c.1266C>T (ELN) ENSP00000369926.4:p.Gly422=
ENST00000380562.8:c.1692C>T (ELN) ENSP00000369936.4:p.Gly564=
ENST00000380575.8:c.1587C>T (ELN) ENSP00000369949.4:p.Gly529=
ENST00000380576.9:c.1617C>T (ELN) ENSP00000369950.5:p.Gly539=
ENST00000380584.8:c.1530C>T (ELN) ENSP00000369958.4:p.Gly510=
ENST00000414324.5:c.1602C>T (ELN) ENSP00000392575.1:p.Gly534=
ENST00000429192.5:c.1632C>T (ELN) ENSP00000391129.1:p.Gly544=
ENST00000445912.5:c.1674C>T (ELN) ENSP00000389857.1:p.Gly558=
ENST00000458204.5:c.1644C>T (ELN) ENSP00000403162.1:p.Gly548=
ENST00000621115.4:c.1407C>T (ELN) ENSP00000480955.1:p.Gly469=
NM_000501.3:c.1674C>T (ELN) NP_000492.2:p.Gly558=
NM_001081752.2:c.1587C>T (ELN) NP_001075221.1:p.Gly529=
NM_001081753.2:c.1632C>T (ELN) NP_001075222.1:p.Gly544=
NM_001081754.2:c.1689C>T (ELN) NP_001075223.1:p.Gly563=
NM_001081755.2:c.1617C>T (ELN) NP_001075224.1:p.Gly539=
NM_001278912.1:c.1674C>T (ELN) NP_001265841.1:p.Gly558=
NM_001278913.1:c.1431C>T (ELN) NP_001265842.1:p.Gly477=
NM_001278914.1:c.1602C>T (ELN) NP_001265843.1:p.Gly534=
NM_001278915.1:c.1692C>T (ELN) NP_001265844.1:p.Gly564=
NM_001278916.1:c.1530C>T (ELN) NP_001265845.1:p.Gly510=
NM_001278917.1:c.1644C>T (ELN) NP_001265846.1:p.Gly548=
NM_001278918.1:c.1407C>T (ELN) NP_001265847.1:p.Gly469=
NM_001278939.1:c.1761C>T (ELN) NP_001265868.1:p.Gly587=
XM_005250187.1:c.1638C>T (ELN) XP_005250244.1:p.Gly546=
XM_005250188.1:c.1632C>T (ELN) XP_005250245.1:p.Gly544=
XM_011515868.1:c.1689C>T (ELN) XP_011514170.1:p.Gly563=
XM_011515869.1:c.1659C>T (ELN) XP_011514171.1:p.Gly553=
XM_011515870.1:c.1653C>T (ELN) XP_011514172.1:p.Gly551=
XM_011515871.1:c.1647C>T (ELN) XP_011514173.1:p.Gly549=
XM_011515872.1:c.1635C>T (ELN) XP_011514174.1:p.Gly545=
XM_011515873.1:c.1632C>T (ELN) XP_011514175.1:p.Gly544=
XM_011515874.1:c.1623C>T (ELN) XP_011514176.1:p.Gly541=
XM_011515875.1:c.1608C>T (ELN) XP_011514177.1:p.Gly536=
XM_011515876.1:c.1689C>T (ELN) XP_011514178.1:p.Gly563=
XM_011515877.1:c.1578C>T (ELN) XP_011514179.1:p.Gly526=
XM_005250187.2:c.1638C>T (ELN) XP_005250244.1:p.Gly546=
XM_005250188.2:c.1632C>T (ELN) XP_005250245.1:p.Gly544=
XM_011515868.2:c.1689C>T (ELN) XP_011514170.1:p.Gly563=
XM_011515871.2:c.1647C>T (ELN) XP_011514173.1:p.Gly549=
XM_011515872.2:c.1635C>T (ELN) XP_011514174.1:p.Gly545=
XM_011515873.2:c.1632C>T (ELN) XP_011514175.1:p.Gly544=
XM_011515875.2:c.1608C>T (ELN) XP_011514177.1:p.Gly536=
XM_011515876.2:c.1689C>T (ELN) XP_011514178.1:p.Gly563=
XM_011515877.2:c.1578C>T (ELN) XP_011514179.1:p.Gly526=
XM_017011813.1:c.1602C>T (ELN) XP_016867302.1:p.Gly534=
XM_017011814.2:c.1590C>T (ELN) XP_016867303.1:p.Gly530=
XR_001745243.1:n.76-396G>A (ELN-AS1)
NM_000501.4:c.1674C>T (ELN) MANE Select NP_000492.2:p.Gly558=
NM_001081752.3:c.1587C>T (ELN) NP_001075221.1:p.Gly529=
NM_001081753.3:c.1632C>T (ELN) NP_001075222.1:p.Gly544=
NM_001081754.3:c.1689C>T (ELN) NP_001075223.1:p.Gly563=
NM_001081755.3:c.1617C>T (ELN) NP_001075224.1:p.Gly539=
NM_001278912.2:c.1674C>T (ELN) NP_001265841.1:p.Gly558=
NM_001278913.2:c.1431C>T (ELN) NP_001265842.1:p.Gly477=
NM_001278914.2:c.1602C>T (ELN) NP_001265843.1:p.Gly534=
NM_001278915.2:c.1692C>T (ELN) NP_001265844.1:p.Gly564=
NM_001278916.2:c.1530C>T (ELN) NP_001265845.1:p.Gly510=
NM_001278917.2:c.1644C>T (ELN) NP_001265846.1:p.Gly548=
NM_001278918.2:c.1407C>T (ELN) NP_001265847.1:p.Gly469=
NM_001278939.2:c.1761C>T (ELN) NP_001265868.1:p.Gly587=