Canonical Allele Identifier: CA4292954
Community Standard Title: NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74056712C>T , CM000669.2:g.74056712C>T GRCh38
NC_000007.13:g.73471042C>T , CM000669.1:g.73471042C>T GRCh37
NC_000007.12:g.73108978C>T NCBI36
NG_009261.1:g.33616C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1356C>T MANE Select NP_000492.2:p.Tyr452=
ENST00000252034.12:c.1356C>T MANE Select ENSP00000252034.7:p.Tyr452=
NM_000501.3:c.1356C>T NP_000492.2:p.Tyr452=
NM_001081752.2:c.1326C>T NP_001075221.1:p.Tyr442=
NM_001081752.3:c.1326C>T NP_001075221.1:p.Tyr442=
NM_001081753.2:c.1371C>T NP_001075222.1:p.Tyr457=
NM_001081753.3:c.1371C>T NP_001075222.1:p.Tyr457=
NM_001081754.2:c.1371C>T NP_001075223.1:p.Tyr457=
NM_001081754.3:c.1371C>T NP_001075223.1:p.Tyr457=
NM_001081755.2:c.1356C>T NP_001075224.1:p.Tyr452=
NM_001081755.3:c.1356C>T NP_001075224.1:p.Tyr452=
NM_001278912.1:c.1356C>T NP_001265841.1:p.Tyr452=
NM_001278912.2:c.1356C>T NP_001265841.1:p.Tyr452=
NM_001278913.1:c.1170C>T NP_001265842.1:p.Tyr390=
NM_001278913.2:c.1170C>T NP_001265842.1:p.Tyr390=
NM_001278914.1:c.1341C>T NP_001265843.1:p.Tyr447=
NM_001278914.2:c.1341C>T NP_001265843.1:p.Tyr447=
NM_001278915.1:c.1356C>T NP_001265844.1:p.Tyr452=
NM_001278915.2:c.1356C>T NP_001265844.1:p.Tyr452=
NM_001278916.1:c.1314C>T NP_001265845.1:p.Tyr438=
NM_001278916.2:c.1314C>T NP_001265845.1:p.Tyr438=
NM_001278917.1:c.1326C>T NP_001265846.1:p.Tyr442=
NM_001278917.2:c.1326C>T NP_001265846.1:p.Tyr442=
NM_001278918.1:c.1146C>T NP_001265847.1:p.Tyr382=
NM_001278918.2:c.1146C>T NP_001265847.1:p.Tyr382=
NM_001278939.1:c.1356C>T NP_001265868.1:p.Tyr452=
NM_001278939.2:c.1356C>T NP_001265868.1:p.Tyr452=
ENST00000252034.11:c.1356C>T ENSP00000252034.7:p.Tyr452=
ENST00000320399.10:c.1356C>T ENSP00000313565.6:p.Tyr452=
ENST00000320492.11:c.1170C>T ENSP00000315607.7:p.Tyr390=
ENST00000357036.9:c.1371C>T ENSP00000349540.5:p.Tyr457=
ENST00000358929.8:c.1356C>T ENSP00000351807.5:p.Tyr452=
ENST00000380553.8:c.1005C>T ENSP00000369926.4:p.Tyr335=
ENST00000380562.8:c.1356C>T ENSP00000369936.4:p.Tyr452=
ENST00000380575.8:c.1326C>T ENSP00000369949.4:p.Tyr442=
ENST00000380576.9:c.1356C>T ENSP00000369950.5:p.Tyr452=
ENST00000380584.8:c.1314C>T ENSP00000369958.4:p.Tyr438=
ENST00000414324.5:c.1341C>T ENSP00000392575.1:p.Tyr447=
ENST00000429192.5:c.1371C>T ENSP00000391129.1:p.Tyr457=
ENST00000445912.5:c.1356C>T ENSP00000389857.1:p.Tyr452=
ENST00000458204.5:c.1326C>T ENSP00000403162.1:p.Tyr442=
ENST00000621115.4:c.1146C>T ENSP00000480955.1:p.Tyr382=
ENST00000692049.1:c.1356C>T ENSP00000510104.1:p.Tyr452=
XM_005250187.1:c.1320C>T XP_005250244.1:p.Tyr440=
XM_005250187.2:c.1320C>T XP_005250244.1:p.Tyr440=
XM_005250188.1:c.1314C>T XP_005250245.1:p.Tyr438=
XM_005250188.2:c.1314C>T XP_005250245.1:p.Tyr438=
XM_011515868.1:c.1371C>T XP_011514170.1:p.Tyr457=
XM_011515868.2:c.1371C>T XP_011514170.1:p.Tyr457=
XM_011515869.1:c.1341C>T XP_011514171.1:p.Tyr447=
XM_011515870.1:c.1335C>T XP_011514172.1:p.Tyr445=
XM_011515871.1:c.1329C>T XP_011514173.1:p.Tyr443=
XM_011515871.2:c.1329C>T XP_011514173.1:p.Tyr443=
XM_011515872.1:c.1317C>T XP_011514174.1:p.Tyr439=
XM_011515872.2:c.1317C>T XP_011514174.1:p.Tyr439=
XM_011515873.1:c.1371C>T XP_011514175.1:p.Tyr457=
XM_011515873.2:c.1371C>T XP_011514175.1:p.Tyr457=
XM_011515874.1:c.1305C>T XP_011514176.1:p.Tyr435=
XM_011515875.1:c.1290C>T XP_011514177.1:p.Tyr430=
XM_011515875.2:c.1290C>T XP_011514177.1:p.Tyr430=
XM_011515876.1:c.1371C>T XP_011514178.1:p.Tyr457=
XM_011515876.2:c.1371C>T XP_011514178.1:p.Tyr457=
XM_011515877.1:c.1317C>T XP_011514179.1:p.Tyr439=
XM_011515877.2:c.1317C>T XP_011514179.1:p.Tyr439=
XM_017011813.1:c.1284C>T XP_016867302.1:p.Tyr428=
XM_017011814.2:c.1329C>T XP_016867303.1:p.Tyr443=