Canonical Allele Identifier: CA4292797
Community Standard Title: NM_000501.4(ELN):c.992C>T (p.Pro331Leu)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74053205C>T , CM000669.2:g.74053205C>T GRCh38
NC_000007.13:g.73467535C>T , CM000669.1:g.73467535C>T GRCh37
NC_000007.12:g.73105471C>T NCBI36
NG_009261.1:g.30109C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.992C>T MANE Select NP_000492.2:p.Pro331Leu
ENST00000252034.12:c.992C>T MANE Select ENSP00000252034.7:p.Pro331Leu
NM_000501.3:c.992C>T NP_000492.2:p.Pro331Leu
NM_001081752.2:c.962C>T NP_001075221.1:p.Pro321Leu
NM_001081752.3:c.962C>T NP_001075221.1:p.Pro321Leu
NM_001081753.2:c.1007C>T NP_001075222.1:p.Pro336Leu
NM_001081753.3:c.1007C>T NP_001075222.1:p.Pro336Leu
NM_001081754.2:c.1007C>T NP_001075223.1:p.Pro336Leu
NM_001081754.3:c.1007C>T NP_001075223.1:p.Pro336Leu
NM_001081755.2:c.992C>T NP_001075224.1:p.Pro331Leu
NM_001081755.3:c.992C>T NP_001075224.1:p.Pro331Leu
NM_001278912.1:c.992C>T NP_001265841.1:p.Pro331Leu
NM_001278912.2:c.992C>T NP_001265841.1:p.Pro331Leu
NM_001278913.1:c.884C>T NP_001265842.1:p.Pro295Leu
NM_001278913.2:c.884C>T NP_001265842.1:p.Pro295Leu
NM_001278914.1:c.977C>T NP_001265843.1:p.Pro326Leu
NM_001278914.2:c.977C>T NP_001265843.1:p.Pro326Leu
NM_001278915.1:c.992C>T NP_001265844.1:p.Pro331Leu
NM_001278915.2:c.992C>T NP_001265844.1:p.Pro331Leu
NM_001278916.1:c.950C>T NP_001265845.1:p.Pro317Leu
NM_001278916.2:c.950C>T NP_001265845.1:p.Pro317Leu
NM_001278917.1:c.962C>T NP_001265846.1:p.Pro321Leu
NM_001278917.2:c.962C>T NP_001265846.1:p.Pro321Leu
NM_001278918.1:c.860C>T NP_001265847.1:p.Pro287Leu
NM_001278918.2:c.860C>T NP_001265847.1:p.Pro287Leu
NM_001278939.1:c.992C>T NP_001265868.1:p.Pro331Leu
NM_001278939.2:c.992C>T NP_001265868.1:p.Pro331Leu
ENST00000252034.11:c.992C>T ENSP00000252034.7:p.Pro331Leu
ENST00000320399.10:c.992C>T ENSP00000313565.6:p.Pro331Leu
ENST00000320492.11:c.884C>T ENSP00000315607.7:p.Pro295Leu
ENST00000357036.9:c.1007C>T ENSP00000349540.5:p.Pro336Leu
ENST00000358929.8:c.992C>T ENSP00000351807.5:p.Pro331Leu
ENST00000380553.8:c.641C>T ENSP00000369926.4:p.Pro214Leu
ENST00000380562.8:c.992C>T ENSP00000369936.4:p.Pro331Leu
ENST00000380575.8:c.962C>T ENSP00000369949.4:p.Pro321Leu
ENST00000380576.9:c.992C>T ENSP00000369950.5:p.Pro331Leu
ENST00000380584.8:c.950C>T ENSP00000369958.4:p.Pro317Leu
ENST00000414324.5:c.977C>T ENSP00000392575.1:p.Pro326Leu
ENST00000429192.5:c.1007C>T ENSP00000391129.1:p.Pro336Leu
ENST00000445912.5:c.992C>T ENSP00000389857.1:p.Pro331Leu
ENST00000458204.5:c.962C>T ENSP00000403162.1:p.Pro321Leu
ENST00000466878.5:n.311C>T
ENST00000492210.1:n.355C>T
ENST00000621115.4:c.860C>T ENSP00000480955.1:p.Pro287Leu
ENST00000692049.1:c.992C>T ENSP00000510104.1:p.Pro331Leu
XM_005250187.1:c.956C>T XP_005250244.1:p.Pro319Leu
XM_005250187.2:c.956C>T XP_005250244.1:p.Pro319Leu
XM_005250188.1:c.950C>T XP_005250245.1:p.Pro317Leu
XM_005250188.2:c.950C>T XP_005250245.1:p.Pro317Leu
XM_011515868.1:c.1007C>T XP_011514170.1:p.Pro336Leu
XM_011515868.2:c.1007C>T XP_011514170.1:p.Pro336Leu
XM_011515869.1:c.977C>T XP_011514171.1:p.Pro326Leu
XM_011515870.1:c.971C>T XP_011514172.1:p.Pro324Leu
XM_011515871.1:c.965C>T XP_011514173.1:p.Pro322Leu
XM_011515871.2:c.965C>T XP_011514173.1:p.Pro322Leu
XM_011515872.1:c.1007C>T XP_011514174.1:p.Pro336Leu
XM_011515872.2:c.1007C>T XP_011514174.1:p.Pro336Leu
XM_011515873.1:c.1007C>T XP_011514175.1:p.Pro336Leu
XM_011515873.2:c.1007C>T XP_011514175.1:p.Pro336Leu
XM_011515874.1:c.941C>T XP_011514176.1:p.Pro314Leu
XM_011515875.1:c.926C>T XP_011514177.1:p.Pro309Leu
XM_011515875.2:c.926C>T XP_011514177.1:p.Pro309Leu
XM_011515876.1:c.1007C>T XP_011514178.1:p.Pro336Leu
XM_011515876.2:c.1007C>T XP_011514178.1:p.Pro336Leu
XM_011515877.1:c.1007C>T XP_011514179.1:p.Pro336Leu
XM_011515877.2:c.1007C>T XP_011514179.1:p.Pro336Leu
XM_017011813.1:c.920C>T XP_016867302.1:p.Pro307Leu
XM_017011814.2:c.965C>T XP_016867303.1:p.Pro322Leu