Canonical Allele Identifier: CA367889266

Gene: ELN

Linked Data

• ClinVar Variation Id: 2613731
• ClinVar RCV Id: RCV003384520
• MyVariant Identifiers: chr7:g.73477486C>T (hg19) ; chr7:g.74063156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063156C>T , CM000669.2:g.74063156C>T	GRCh38
NC_000007.13:g.73477486C>T , CM000669.1:g.73477486C>T	GRCh37
NC_000007.12:g.73115422C>T	NCBI36
NG_009261.1:g.40060C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1976C>T	ENSP00000510104.1:p.Ala659Val
ENST00000252034.12:c.1790C>T MANE Select	ENSP00000252034.7:p.Ala597Val
ENST00000252034.11:c.1790C>T	ENSP00000252034.7:p.Ala597Val
ENST00000320399.10:c.1889C>T	ENSP00000313565.6:p.Ala630Val
ENST00000320492.11:c.1547C>T	ENSP00000315607.7:p.Ala516Val
ENST00000357036.9:c.1805C>T	ENSP00000349540.5:p.Ala602Val
ENST00000358929.8:c.1976C>T	ENSP00000351807.5:p.Ala659Val
ENST00000380553.8:c.1382C>T	ENSP00000369926.4:p.Ala461Val
ENST00000380562.8:c.1808C>T	ENSP00000369936.4:p.Ala603Val
ENST00000380575.8:c.1703C>T	ENSP00000369949.4:p.Ala568Val
ENST00000380576.9:c.1733C>T	ENSP00000369950.5:p.Ala578Val
ENST00000380584.8:c.1646C>T	ENSP00000369958.4:p.Ala549Val
ENST00000414324.5:c.1718C>T	ENSP00000392575.1:p.Ala573Val
ENST00000429192.5:c.1748C>T	ENSP00000391129.1:p.Ala583Val
ENST00000445912.5:c.1790C>T	ENSP00000389857.1:p.Ala597Val
ENST00000458204.5:c.1760C>T	ENSP00000403162.1:p.Ala587Val
ENST00000621115.4:c.1523C>T	ENSP00000480955.1:p.Ala508Val
NM_000501.3:c.1790C>T	NP_000492.2:p.Ala597Val
NM_001081752.2:c.1703C>T	NP_001075221.1:p.Ala568Val
NM_001081753.2:c.1748C>T	NP_001075222.1:p.Ala583Val
NM_001081754.2:c.1805C>T	NP_001075223.1:p.Ala602Val
NM_001081755.2:c.1733C>T	NP_001075224.1:p.Ala578Val
NM_001278912.1:c.1790C>T	NP_001265841.1:p.Ala597Val
NM_001278913.1:c.1547C>T	NP_001265842.1:p.Ala516Val
NM_001278914.1:c.1718C>T	NP_001265843.1:p.Ala573Val
NM_001278915.1:c.1808C>T	NP_001265844.1:p.Ala603Val
NM_001278916.1:c.1646C>T	NP_001265845.1:p.Ala549Val
NM_001278917.1:c.1760C>T	NP_001265846.1:p.Ala587Val
NM_001278918.1:c.1523C>T	NP_001265847.1:p.Ala508Val
NM_001278939.1:c.1976C>T	NP_001265868.1:p.Ala659Val
XM_005250187.1:c.1754C>T	XP_005250244.1:p.Ala585Val
XM_005250188.1:c.1748C>T	XP_005250245.1:p.Ala583Val
XM_011515868.1:c.1805C>T	XP_011514170.1:p.Ala602Val
XM_011515869.1:c.1775C>T	XP_011514171.1:p.Ala592Val
XM_011515870.1:c.1769C>T	XP_011514172.1:p.Ala590Val
XM_011515871.1:c.1763C>T	XP_011514173.1:p.Ala588Val
XM_011515872.1:c.1751C>T	XP_011514174.1:p.Ala584Val
XM_011515873.1:c.1748C>T	XP_011514175.1:p.Ala583Val
XM_011515874.1:c.1739C>T	XP_011514176.1:p.Ala580Val
XM_011515875.1:c.1724C>T	XP_011514177.1:p.Ala575Val
XM_011515876.1:c.1805C>T	XP_011514178.1:p.Ala602Val
XM_011515877.1:c.1694C>T	XP_011514179.1:p.Ala565Val
XM_005250187.2:c.1754C>T	XP_005250244.1:p.Ala585Val
XM_005250188.2:c.1748C>T	XP_005250245.1:p.Ala583Val
XM_011515868.2:c.1805C>T	XP_011514170.1:p.Ala602Val
XM_011515871.2:c.1763C>T	XP_011514173.1:p.Ala588Val
XM_011515872.2:c.1751C>T	XP_011514174.1:p.Ala584Val
XM_011515873.2:c.1748C>T	XP_011514175.1:p.Ala583Val
XM_011515875.2:c.1724C>T	XP_011514177.1:p.Ala575Val
XM_011515876.2:c.1805C>T	XP_011514178.1:p.Ala602Val
XM_011515877.2:c.1694C>T	XP_011514179.1:p.Ala565Val
XM_017011813.1:c.1718C>T	XP_016867302.1:p.Ala573Val
XM_017011814.2:c.1706C>T	XP_016867303.1:p.Ala569Val
NM_000501.4:c.1790C>T MANE Select	NP_000492.2:p.Ala597Val
NM_001081752.3:c.1703C>T	NP_001075221.1:p.Ala568Val
NM_001081753.3:c.1748C>T	NP_001075222.1:p.Ala583Val
NM_001081754.3:c.1805C>T	NP_001075223.1:p.Ala602Val
NM_001081755.3:c.1733C>T	NP_001075224.1:p.Ala578Val
NM_001278912.2:c.1790C>T	NP_001265841.1:p.Ala597Val
NM_001278913.2:c.1547C>T	NP_001265842.1:p.Ala516Val
NM_001278914.2:c.1718C>T	NP_001265843.1:p.Ala573Val
NM_001278915.2:c.1808C>T	NP_001265844.1:p.Ala603Val
NM_001278916.2:c.1646C>T	NP_001265845.1:p.Ala549Val
NM_001278917.2:c.1760C>T	NP_001265846.1:p.Ala587Val
NM_001278918.2:c.1523C>T	NP_001265847.1:p.Ala508Val
NM_001278939.2:c.1976C>T	NP_001265868.1:p.Ala659Val