Canonical Allele Identifier: CA575335714
Community Standard Title: NM_000501.4(ELN):c.1747+86C>T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060587C>T , CM000669.2:g.74060587C>T GRCh38
NC_000007.13:g.73474917C>T , CM000669.1:g.73474917C>T GRCh37
NC_000007.12:g.73112853C>T NCBI36
NG_009261.1:g.37491C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1747+86C>T (ELN) MANE Select NP_000492.2:n.1747+86C>T
ENST00000252034.12:c.1747+86C>T (ELN) MANE Select ENSP00000252034.7:n.1747+86C>T
NM_000501.3:c.1747+86C>T (ELN) NP_000492.2:n.1747+86C>T
NM_001081752.2:c.1660+86C>T (ELN) NP_001075221.1:n.1660+86C>T
NM_001081752.3:c.1660+86C>T (ELN) NP_001075221.1:n.1660+86C>T
NM_001081753.2:c.1705+86C>T (ELN) NP_001075222.1:n.1705+86C>T
NM_001081753.3:c.1705+86C>T (ELN) NP_001075222.1:n.1705+86C>T
NM_001081754.2:c.1762+86C>T (ELN) NP_001075223.1:n.1762+86C>T
NM_001081754.3:c.1762+86C>T (ELN) NP_001075223.1:n.1762+86C>T
NM_001081755.2:c.1690+86C>T (ELN) NP_001075224.1:n.1690+86C>T
NM_001081755.3:c.1690+86C>T (ELN) NP_001075224.1:n.1690+86C>T
NM_001278912.1:c.1747+86C>T (ELN) NP_001265841.1:n.1747+86C>T
NM_001278912.2:c.1747+86C>T (ELN) NP_001265841.1:n.1747+86C>T
NM_001278913.1:c.1504+86C>T (ELN) NP_001265842.1:n.1504+86C>T
NM_001278913.2:c.1504+86C>T (ELN) NP_001265842.1:n.1504+86C>T
NM_001278914.1:c.1675+86C>T (ELN) NP_001265843.1:n.1675+86C>T
NM_001278914.2:c.1675+86C>T (ELN) NP_001265843.1:n.1675+86C>T
NM_001278915.1:c.1765+86C>T (ELN) NP_001265844.1:n.1765+86C>T
NM_001278915.2:c.1765+86C>T (ELN) NP_001265844.1:n.1765+86C>T
NM_001278916.1:c.1603+86C>T (ELN) NP_001265845.1:n.1603+86C>T
NM_001278916.2:c.1603+86C>T (ELN) NP_001265845.1:n.1603+86C>T
NM_001278917.1:c.1717+86C>T (ELN) NP_001265846.1:n.1717+86C>T
NM_001278917.2:c.1717+86C>T (ELN) NP_001265846.1:n.1717+86C>T
NM_001278918.1:c.1480+86C>T (ELN) NP_001265847.1:n.1480+86C>T
NM_001278918.2:c.1480+86C>T (ELN) NP_001265847.1:n.1480+86C>T
NM_001278939.1:c.1920C>T (ELN) NP_001265868.1:p.Pro640=
NM_001278939.2:c.1920C>T (ELN) NP_001265868.1:p.Pro640=
ENST00000252034.11:c.1747+86C>T (ELN) ENSP00000252034.7:n.1747+86C>T
ENST00000320399.10:c.1833C>T (ELN) ENSP00000313565.6:p.Pro611=
ENST00000320492.11:c.1504+86C>T (ELN) ENSP00000315607.7:n.1504+86C>T
ENST00000357036.9:c.1762+86C>T (ELN) ENSP00000349540.5:n.1762+86C>T
ENST00000358929.8:c.1920C>T (ELN) ENSP00000351807.5:p.Pro640=
ENST00000380553.8:c.1339+86C>T (ELN) ENSP00000369926.4:n.1339+86C>T
ENST00000380562.8:c.1765+86C>T (ELN) ENSP00000369936.4:n.1765+86C>T
ENST00000380575.8:c.1660+86C>T (ELN) ENSP00000369949.4:n.1660+86C>T
ENST00000380576.9:c.1690+86C>T (ELN) ENSP00000369950.5:n.1690+86C>T
ENST00000380584.8:c.1603+86C>T (ELN) ENSP00000369958.4:n.1603+86C>T
ENST00000414324.5:c.1675+86C>T (ELN) ENSP00000392575.1:n.1675+86C>T
ENST00000429192.5:c.1705+86C>T (ELN) ENSP00000391129.1:n.1705+86C>T
ENST00000445912.5:c.1747+86C>T (ELN) ENSP00000389857.1:n.1747+86C>T
ENST00000458204.5:c.1717+86C>T (ELN) ENSP00000403162.1:n.1717+86C>T
ENST00000621115.4:c.1480+86C>T (ELN) ENSP00000480955.1:n.1480+86C>T
ENST00000692049.1:c.1920C>T (ELN) ENSP00000510104.1:p.Pro640=
XM_005250187.1:c.1711+86C>T (ELN) XP_005250244.1:n.1711+86C>T
XM_005250187.2:c.1711+86C>T (ELN) XP_005250244.1:n.1711+86C>T
XM_005250188.1:c.1705+86C>T (ELN) XP_005250245.1:n.1705+86C>T
XM_005250188.2:c.1705+86C>T (ELN) XP_005250245.1:n.1705+86C>T
XM_011515868.1:c.1762+86C>T (ELN) XP_011514170.1:n.1762+86C>T
XM_011515868.2:c.1762+86C>T (ELN) XP_011514170.1:n.1762+86C>T
XM_011515869.1:c.1732+86C>T (ELN) XP_011514171.1:n.1732+86C>T
XM_011515870.1:c.1726+86C>T (ELN) XP_011514172.1:n.1726+86C>T
XM_011515871.1:c.1720+86C>T (ELN) XP_011514173.1:n.1720+86C>T
XM_011515871.2:c.1720+86C>T (ELN) XP_011514173.1:n.1720+86C>T
XM_011515872.1:c.1708+86C>T (ELN) XP_011514174.1:n.1708+86C>T
XM_011515872.2:c.1708+86C>T (ELN) XP_011514174.1:n.1708+86C>T
XM_011515873.1:c.1705+86C>T (ELN) XP_011514175.1:n.1705+86C>T
XM_011515873.2:c.1705+86C>T (ELN) XP_011514175.1:n.1705+86C>T
XM_011515874.1:c.1696+86C>T (ELN) XP_011514176.1:n.1696+86C>T
XM_011515875.1:c.1681+86C>T (ELN) XP_011514177.1:n.1681+86C>T
XM_011515875.2:c.1681+86C>T (ELN) XP_011514177.1:n.1681+86C>T
XM_011515876.1:c.1762+86C>T (ELN) XP_011514178.1:n.1762+86C>T
XM_011515876.2:c.1762+86C>T (ELN) XP_011514178.1:n.1762+86C>T
XM_011515877.1:c.1651+86C>T (ELN) XP_011514179.1:n.1651+86C>T
XM_011515877.2:c.1651+86C>T (ELN) XP_011514179.1:n.1651+86C>T
XM_017011813.1:c.1675+86C>T (ELN) XP_016867302.1:n.1675+86C>T
XM_017011814.2:c.1663+86C>T (ELN) XP_016867303.1:n.1663+86C>T
XR_001745243.1:n.76-555G>A (ELN-AS1)