Canonical Allele Identifier: CA16618557
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 419450
ClinVar RCV Id: RCV000486139
dbSNP Id: rs1064793880

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74046755C>T , CM000669.2:g.74046755C>T GRCh38
NC_000007.13:g.73461085C>T , CM000669.1:g.73461085C>T GRCh37
NC_000007.12:g.73099021C>T NCBI36
NG_009261.1:g.23659C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000692049.1:c.631C>T ENSP00000510104.1:p.Pro211Ser
ENST00000252034.12:c.631C>T MANE Select ENSP00000252034.7:p.Pro211Ser
ENST00000252034.11:c.631C>T ENSP00000252034.7:p.Pro211Ser
ENST00000320399.10:c.631C>T ENSP00000313565.6:p.Pro211Ser
ENST00000320492.11:c.565C>T ENSP00000315607.7:p.Pro189Ser
ENST00000357036.9:c.646C>T ENSP00000349540.5:p.Pro216Ser
ENST00000358929.8:c.631C>T ENSP00000351807.5:p.Pro211Ser
ENST00000380553.8:c.322C>T ENSP00000369926.4:p.Pro108Ser
ENST00000380562.8:c.631C>T ENSP00000369936.4:p.Pro211Ser
ENST00000380575.8:c.601C>T ENSP00000369949.4:p.Pro201Ser
ENST00000380576.9:c.631C>T ENSP00000369950.5:p.Pro211Ser
ENST00000380584.8:c.631C>T ENSP00000369958.4:p.Pro211Ser
ENST00000414324.5:c.616C>T ENSP00000392575.1:p.Pro206Ser
ENST00000417091.5:c.529C>T ENSP00000411092.1:p.Pro177Ser
ENST00000428787.5:c.385C>T ENSP00000399499.1:p.Pro129Ser
ENST00000429192.5:c.646C>T ENSP00000391129.1:p.Pro216Ser
ENST00000438880.5:c.256C>T ENSP00000389206.1:p.Pro86Ser
ENST00000438906.5:c.565C>T ENSP00000406949.1:p.Pro189Ser
ENST00000442310.5:c.517C>T ENSP00000403961.1:p.Pro173Ser
ENST00000445912.5:c.631C>T ENSP00000389857.1:p.Pro211Ser
ENST00000458204.5:c.601C>T ENSP00000403162.1:p.Pro201Ser
ENST00000477397.1:n.515C>T
ENST00000493839.1:n.97C>T
ENST00000621115.4:c.499C>T ENSP00000480955.1:p.Pro167Ser
NM_000501.3:c.631C>T NP_000492.2:p.Pro211Ser
NM_001081752.2:c.601C>T NP_001075221.1:p.Pro201Ser
NM_001081753.2:c.646C>T NP_001075222.1:p.Pro216Ser
NM_001081754.2:c.646C>T NP_001075223.1:p.Pro216Ser
NM_001081755.2:c.631C>T NP_001075224.1:p.Pro211Ser
NM_001278912.1:c.631C>T NP_001265841.1:p.Pro211Ser
NM_001278913.1:c.565C>T NP_001265842.1:p.Pro189Ser
NM_001278914.1:c.616C>T NP_001265843.1:p.Pro206Ser
NM_001278915.1:c.631C>T NP_001265844.1:p.Pro211Ser
NM_001278916.1:c.631C>T NP_001265845.1:p.Pro211Ser
NM_001278917.1:c.601C>T NP_001265846.1:p.Pro201Ser
NM_001278918.1:c.499C>T NP_001265847.1:p.Pro167Ser
NM_001278939.1:c.631C>T NP_001265868.1:p.Pro211Ser
XM_005250187.1:c.595C>T XP_005250244.1:p.Pro199Ser
XM_005250188.1:c.631C>T XP_005250245.1:p.Pro211Ser
XM_011515868.1:c.646C>T XP_011514170.1:p.Pro216Ser
XM_011515869.1:c.616C>T XP_011514171.1:p.Pro206Ser
XM_011515870.1:c.610C>T XP_011514172.1:p.Pro204Ser
XM_011515871.1:c.646C>T XP_011514173.1:p.Pro216Ser
XM_011515872.1:c.646C>T XP_011514174.1:p.Pro216Ser
XM_011515873.1:c.646C>T XP_011514175.1:p.Pro216Ser
XM_011515874.1:c.580C>T XP_011514176.1:p.Pro194Ser
XM_011515875.1:c.565C>T XP_011514177.1:p.Pro189Ser
XM_011515876.1:c.646C>T XP_011514178.1:p.Pro216Ser
XM_011515877.1:c.646C>T XP_011514179.1:p.Pro216Ser
XM_005250187.2:c.595C>T XP_005250244.1:p.Pro199Ser
XM_005250188.2:c.631C>T XP_005250245.1:p.Pro211Ser
XM_011515868.2:c.646C>T XP_011514170.1:p.Pro216Ser
XM_011515871.2:c.646C>T XP_011514173.1:p.Pro216Ser
XM_011515872.2:c.646C>T XP_011514174.1:p.Pro216Ser
XM_011515873.2:c.646C>T XP_011514175.1:p.Pro216Ser
XM_011515875.2:c.565C>T XP_011514177.1:p.Pro189Ser
XM_011515876.2:c.646C>T XP_011514178.1:p.Pro216Ser
XM_011515877.2:c.646C>T XP_011514179.1:p.Pro216Ser
XM_017011813.1:c.601C>T XP_016867302.1:p.Pro201Ser
XM_017011814.2:c.646C>T XP_016867303.1:p.Pro216Ser
NM_000501.4:c.631C>T MANE Select NP_000492.2:p.Pro211Ser
NM_001081752.3:c.601C>T NP_001075221.1:p.Pro201Ser
NM_001081753.3:c.646C>T NP_001075222.1:p.Pro216Ser
NM_001081754.3:c.646C>T NP_001075223.1:p.Pro216Ser
NM_001081755.3:c.631C>T NP_001075224.1:p.Pro211Ser
NM_001278912.2:c.631C>T NP_001265841.1:p.Pro211Ser
NM_001278913.2:c.565C>T NP_001265842.1:p.Pro189Ser
NM_001278914.2:c.616C>T NP_001265843.1:p.Pro206Ser
NM_001278915.2:c.631C>T NP_001265844.1:p.Pro211Ser
NM_001278916.2:c.631C>T NP_001265845.1:p.Pro211Ser
NM_001278917.2:c.601C>T NP_001265846.1:p.Pro201Ser
NM_001278918.2:c.499C>T NP_001265847.1:p.Pro167Ser
NM_001278939.2:c.631C>T NP_001265868.1:p.Pro211Ser