Canonical Allele Identifier: CA367889263

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73477486C>G (hg19) ; chr7:g.74063156C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1976C>G	ENSP00000510104.1:p.Ala659Gly
ENST00000252034.12:c.1790C>G MANE Select	ENSP00000252034.7:p.Ala597Gly
ENST00000252034.11:c.1790C>G	ENSP00000252034.7:p.Ala597Gly
ENST00000320399.10:c.1889C>G	ENSP00000313565.6:p.Ala630Gly
ENST00000320492.11:c.1547C>G	ENSP00000315607.7:p.Ala516Gly
ENST00000357036.9:c.1805C>G	ENSP00000349540.5:p.Ala602Gly
ENST00000358929.8:c.1976C>G	ENSP00000351807.5:p.Ala659Gly
ENST00000380553.8:c.1382C>G	ENSP00000369926.4:p.Ala461Gly
ENST00000380562.8:c.1808C>G	ENSP00000369936.4:p.Ala603Gly
ENST00000380575.8:c.1703C>G	ENSP00000369949.4:p.Ala568Gly
ENST00000380576.9:c.1733C>G	ENSP00000369950.5:p.Ala578Gly
ENST00000380584.8:c.1646C>G	ENSP00000369958.4:p.Ala549Gly
ENST00000414324.5:c.1718C>G	ENSP00000392575.1:p.Ala573Gly
ENST00000429192.5:c.1748C>G	ENSP00000391129.1:p.Ala583Gly
ENST00000445912.5:c.1790C>G	ENSP00000389857.1:p.Ala597Gly
ENST00000458204.5:c.1760C>G	ENSP00000403162.1:p.Ala587Gly
ENST00000621115.4:c.1523C>G	ENSP00000480955.1:p.Ala508Gly
NM_000501.3:c.1790C>G	NP_000492.2:p.Ala597Gly
NM_001081752.2:c.1703C>G	NP_001075221.1:p.Ala568Gly
NM_001081753.2:c.1748C>G	NP_001075222.1:p.Ala583Gly
NM_001081754.2:c.1805C>G	NP_001075223.1:p.Ala602Gly
NM_001081755.2:c.1733C>G	NP_001075224.1:p.Ala578Gly
NM_001278912.1:c.1790C>G	NP_001265841.1:p.Ala597Gly
NM_001278913.1:c.1547C>G	NP_001265842.1:p.Ala516Gly
NM_001278914.1:c.1718C>G	NP_001265843.1:p.Ala573Gly
NM_001278915.1:c.1808C>G	NP_001265844.1:p.Ala603Gly
NM_001278916.1:c.1646C>G	NP_001265845.1:p.Ala549Gly
NM_001278917.1:c.1760C>G	NP_001265846.1:p.Ala587Gly
NM_001278918.1:c.1523C>G	NP_001265847.1:p.Ala508Gly
NM_001278939.1:c.1976C>G	NP_001265868.1:p.Ala659Gly
XM_005250187.1:c.1754C>G	XP_005250244.1:p.Ala585Gly
XM_005250188.1:c.1748C>G	XP_005250245.1:p.Ala583Gly
XM_011515868.1:c.1805C>G	XP_011514170.1:p.Ala602Gly
XM_011515869.1:c.1775C>G	XP_011514171.1:p.Ala592Gly
XM_011515870.1:c.1769C>G	XP_011514172.1:p.Ala590Gly
XM_011515871.1:c.1763C>G	XP_011514173.1:p.Ala588Gly
XM_011515872.1:c.1751C>G	XP_011514174.1:p.Ala584Gly
XM_011515873.1:c.1748C>G	XP_011514175.1:p.Ala583Gly
XM_011515874.1:c.1739C>G	XP_011514176.1:p.Ala580Gly
XM_011515875.1:c.1724C>G	XP_011514177.1:p.Ala575Gly
XM_011515876.1:c.1805C>G	XP_011514178.1:p.Ala602Gly
XM_011515877.1:c.1694C>G	XP_011514179.1:p.Ala565Gly
XM_005250187.2:c.1754C>G	XP_005250244.1:p.Ala585Gly
XM_005250188.2:c.1748C>G	XP_005250245.1:p.Ala583Gly
XM_011515868.2:c.1805C>G	XP_011514170.1:p.Ala602Gly
XM_011515871.2:c.1763C>G	XP_011514173.1:p.Ala588Gly
XM_011515872.2:c.1751C>G	XP_011514174.1:p.Ala584Gly
XM_011515873.2:c.1748C>G	XP_011514175.1:p.Ala583Gly
XM_011515875.2:c.1724C>G	XP_011514177.1:p.Ala575Gly
XM_011515876.2:c.1805C>G	XP_011514178.1:p.Ala602Gly
XM_011515877.2:c.1694C>G	XP_011514179.1:p.Ala565Gly
XM_017011813.1:c.1718C>G	XP_016867302.1:p.Ala573Gly
XM_017011814.2:c.1706C>G	XP_016867303.1:p.Ala569Gly
NM_000501.4:c.1790C>G MANE Select	NP_000492.2:p.Ala597Gly
NM_001081752.3:c.1703C>G	NP_001075221.1:p.Ala568Gly
NM_001081753.3:c.1748C>G	NP_001075222.1:p.Ala583Gly
NM_001081754.3:c.1805C>G	NP_001075223.1:p.Ala602Gly
NM_001081755.3:c.1733C>G	NP_001075224.1:p.Ala578Gly
NM_001278912.2:c.1790C>G	NP_001265841.1:p.Ala597Gly
NM_001278913.2:c.1547C>G	NP_001265842.1:p.Ala516Gly
NM_001278914.2:c.1718C>G	NP_001265843.1:p.Ala573Gly
NM_001278915.2:c.1808C>G	NP_001265844.1:p.Ala603Gly
NM_001278916.2:c.1646C>G	NP_001265845.1:p.Ala549Gly
NM_001278917.2:c.1760C>G	NP_001265846.1:p.Ala587Gly
NM_001278918.2:c.1523C>G	NP_001265847.1:p.Ala508Gly
NM_001278939.2:c.1976C>G	NP_001265868.1:p.Ala659Gly