Canonical Allele Identifier: CA4293166
Community Standard Title: NM_000501.4(ELN):c.1734T>C (p.Pro578=)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060488T>C , CM000669.2:g.74060488T>C GRCh38
NC_000007.13:g.73474818T>C , CM000669.1:g.73474818T>C GRCh37
NC_000007.12:g.73112754T>C NCBI36
NG_009261.1:g.37392T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1734T>C (ELN) MANE Select NP_000492.2:p.Pro578=
ENST00000252034.12:c.1734T>C (ELN) MANE Select ENSP00000252034.7:p.Pro578=
NM_000501.3:c.1734T>C (ELN) NP_000492.2:p.Pro578=
NM_001081752.2:c.1647T>C (ELN) NP_001075221.1:p.Pro549=
NM_001081752.3:c.1647T>C (ELN) NP_001075221.1:p.Pro549=
NM_001081753.2:c.1692T>C (ELN) NP_001075222.1:p.Pro564=
NM_001081753.3:c.1692T>C (ELN) NP_001075222.1:p.Pro564=
NM_001081754.2:c.1749T>C (ELN) NP_001075223.1:p.Pro583=
NM_001081754.3:c.1749T>C (ELN) NP_001075223.1:p.Pro583=
NM_001081755.2:c.1677T>C (ELN) NP_001075224.1:p.Pro559=
NM_001081755.3:c.1677T>C (ELN) NP_001075224.1:p.Pro559=
NM_001278912.1:c.1734T>C (ELN) NP_001265841.1:p.Pro578=
NM_001278912.2:c.1734T>C (ELN) NP_001265841.1:p.Pro578=
NM_001278913.1:c.1491T>C (ELN) NP_001265842.1:p.Pro497=
NM_001278913.2:c.1491T>C (ELN) NP_001265842.1:p.Pro497=
NM_001278914.1:c.1662T>C (ELN) NP_001265843.1:p.Pro554=
NM_001278914.2:c.1662T>C (ELN) NP_001265843.1:p.Pro554=
NM_001278915.1:c.1752T>C (ELN) NP_001265844.1:p.Pro584=
NM_001278915.2:c.1752T>C (ELN) NP_001265844.1:p.Pro584=
NM_001278916.1:c.1590T>C (ELN) NP_001265845.1:p.Pro530=
NM_001278916.2:c.1590T>C (ELN) NP_001265845.1:p.Pro530=
NM_001278917.1:c.1704T>C (ELN) NP_001265846.1:p.Pro568=
NM_001278917.2:c.1704T>C (ELN) NP_001265846.1:p.Pro568=
NM_001278918.1:c.1467T>C (ELN) NP_001265847.1:p.Pro489=
NM_001278918.2:c.1467T>C (ELN) NP_001265847.1:p.Pro489=
NM_001278939.1:c.1821T>C (ELN) NP_001265868.1:p.Pro607=
NM_001278939.2:c.1821T>C (ELN) NP_001265868.1:p.Pro607=
ENST00000252034.11:c.1734T>C (ELN) ENSP00000252034.7:p.Pro578=
ENST00000320399.10:c.1734T>C (ELN) ENSP00000313565.6:p.Pro578=
ENST00000320492.11:c.1491T>C (ELN) ENSP00000315607.7:p.Pro497=
ENST00000357036.9:c.1749T>C (ELN) ENSP00000349540.5:p.Pro583=
ENST00000358929.8:c.1821T>C (ELN) ENSP00000351807.5:p.Pro607=
ENST00000380553.8:c.1326T>C (ELN) ENSP00000369926.4:p.Pro442=
ENST00000380562.8:c.1752T>C (ELN) ENSP00000369936.4:p.Pro584=
ENST00000380575.8:c.1647T>C (ELN) ENSP00000369949.4:p.Pro549=
ENST00000380576.9:c.1677T>C (ELN) ENSP00000369950.5:p.Pro559=
ENST00000380584.8:c.1590T>C (ELN) ENSP00000369958.4:p.Pro530=
ENST00000414324.5:c.1662T>C (ELN) ENSP00000392575.1:p.Pro554=
ENST00000429192.5:c.1692T>C (ELN) ENSP00000391129.1:p.Pro564=
ENST00000445912.5:c.1734T>C (ELN) ENSP00000389857.1:p.Pro578=
ENST00000458204.5:c.1704T>C (ELN) ENSP00000403162.1:p.Pro568=
ENST00000621115.4:c.1467T>C (ELN) ENSP00000480955.1:p.Pro489=
ENST00000692049.1:c.1821T>C (ELN) ENSP00000510104.1:p.Pro607=
XM_005250187.1:c.1698T>C (ELN) XP_005250244.1:p.Pro566=
XM_005250187.2:c.1698T>C (ELN) XP_005250244.1:p.Pro566=
XM_005250188.1:c.1692T>C (ELN) XP_005250245.1:p.Pro564=
XM_005250188.2:c.1692T>C (ELN) XP_005250245.1:p.Pro564=
XM_011515868.1:c.1749T>C (ELN) XP_011514170.1:p.Pro583=
XM_011515868.2:c.1749T>C (ELN) XP_011514170.1:p.Pro583=
XM_011515869.1:c.1719T>C (ELN) XP_011514171.1:p.Pro573=
XM_011515870.1:c.1713T>C (ELN) XP_011514172.1:p.Pro571=
XM_011515871.1:c.1707T>C (ELN) XP_011514173.1:p.Pro569=
XM_011515871.2:c.1707T>C (ELN) XP_011514173.1:p.Pro569=
XM_011515872.1:c.1695T>C (ELN) XP_011514174.1:p.Pro565=
XM_011515872.2:c.1695T>C (ELN) XP_011514174.1:p.Pro565=
XM_011515873.1:c.1692T>C (ELN) XP_011514175.1:p.Pro564=
XM_011515873.2:c.1692T>C (ELN) XP_011514175.1:p.Pro564=
XM_011515874.1:c.1683T>C (ELN) XP_011514176.1:p.Pro561=
XM_011515875.1:c.1668T>C (ELN) XP_011514177.1:p.Pro556=
XM_011515875.2:c.1668T>C (ELN) XP_011514177.1:p.Pro556=
XM_011515876.1:c.1749T>C (ELN) XP_011514178.1:p.Pro583=
XM_011515876.2:c.1749T>C (ELN) XP_011514178.1:p.Pro583=
XM_011515877.1:c.1638T>C (ELN) XP_011514179.1:p.Pro546=
XM_011515877.2:c.1638T>C (ELN) XP_011514179.1:p.Pro546=
XM_017011813.1:c.1662T>C (ELN) XP_016867302.1:p.Pro554=
XM_017011814.2:c.1650T>C (ELN) XP_016867303.1:p.Pro550=
XR_001745243.1:n.76-456A>G (ELN-AS1)