Canonical Allele Identifier: CA367889432

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73477519C>G (hg19) ; chr7:g.74063189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063189C>G , CM000669.2:g.74063189C>G	GRCh38
NC_000007.13:g.73477519C>G , CM000669.1:g.73477519C>G	GRCh37
NC_000007.12:g.73115455C>G	NCBI36
NG_009261.1:g.40093C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2009C>G	ENSP00000510104.1:p.Ala670Gly
ENST00000252034.12:c.1823C>G MANE Select	ENSP00000252034.7:p.Ala608Gly
ENST00000252034.11:c.1823C>G	ENSP00000252034.7:p.Ala608Gly
ENST00000320399.10:c.1922C>G	ENSP00000313565.6:p.Ala641Gly
ENST00000320492.11:c.1580C>G	ENSP00000315607.7:p.Ala527Gly
ENST00000357036.9:c.1838C>G	ENSP00000349540.5:p.Ala613Gly
ENST00000358929.8:c.2009C>G	ENSP00000351807.5:p.Ala670Gly
ENST00000380553.8:c.1415C>G	ENSP00000369926.4:p.Ala472Gly
ENST00000380562.8:c.1841C>G	ENSP00000369936.4:p.Ala614Gly
ENST00000380575.8:c.1736C>G	ENSP00000369949.4:p.Ala579Gly
ENST00000380576.9:c.1766C>G	ENSP00000369950.5:p.Ala589Gly
ENST00000380584.8:c.1679C>G	ENSP00000369958.4:p.Ala560Gly
ENST00000414324.5:c.1751C>G	ENSP00000392575.1:p.Ala584Gly
ENST00000429192.5:c.1781C>G	ENSP00000391129.1:p.Ala594Gly
ENST00000445912.5:c.1823C>G	ENSP00000389857.1:p.Ala608Gly
ENST00000458204.5:c.1793C>G	ENSP00000403162.1:p.Ala598Gly
ENST00000621115.4:c.1556C>G	ENSP00000480955.1:p.Ala519Gly
NM_000501.3:c.1823C>G	NP_000492.2:p.Ala608Gly
NM_001081752.2:c.1736C>G	NP_001075221.1:p.Ala579Gly
NM_001081753.2:c.1781C>G	NP_001075222.1:p.Ala594Gly
NM_001081754.2:c.1838C>G	NP_001075223.1:p.Ala613Gly
NM_001081755.2:c.1766C>G	NP_001075224.1:p.Ala589Gly
NM_001278912.1:c.1823C>G	NP_001265841.1:p.Ala608Gly
NM_001278913.1:c.1580C>G	NP_001265842.1:p.Ala527Gly
NM_001278914.1:c.1751C>G	NP_001265843.1:p.Ala584Gly
NM_001278915.1:c.1841C>G	NP_001265844.1:p.Ala614Gly
NM_001278916.1:c.1679C>G	NP_001265845.1:p.Ala560Gly
NM_001278917.1:c.1793C>G	NP_001265846.1:p.Ala598Gly
NM_001278918.1:c.1556C>G	NP_001265847.1:p.Ala519Gly
NM_001278939.1:c.2009C>G	NP_001265868.1:p.Ala670Gly
XM_005250187.1:c.1787C>G	XP_005250244.1:p.Ala596Gly
XM_005250188.1:c.1781C>G	XP_005250245.1:p.Ala594Gly
XM_011515868.1:c.1838C>G	XP_011514170.1:p.Ala613Gly
XM_011515869.1:c.1808C>G	XP_011514171.1:p.Ala603Gly
XM_011515870.1:c.1802C>G	XP_011514172.1:p.Ala601Gly
XM_011515871.1:c.1796C>G	XP_011514173.1:p.Ala599Gly
XM_011515872.1:c.1784C>G	XP_011514174.1:p.Ala595Gly
XM_011515873.1:c.1781C>G	XP_011514175.1:p.Ala594Gly
XM_011515874.1:c.1772C>G	XP_011514176.1:p.Ala591Gly
XM_011515875.1:c.1757C>G	XP_011514177.1:p.Ala586Gly
XM_011515876.1:c.1838C>G	XP_011514178.1:p.Ala613Gly
XM_011515877.1:c.1727C>G	XP_011514179.1:p.Ala576Gly
XM_005250187.2:c.1787C>G	XP_005250244.1:p.Ala596Gly
XM_005250188.2:c.1781C>G	XP_005250245.1:p.Ala594Gly
XM_011515868.2:c.1838C>G	XP_011514170.1:p.Ala613Gly
XM_011515871.2:c.1796C>G	XP_011514173.1:p.Ala599Gly
XM_011515872.2:c.1784C>G	XP_011514174.1:p.Ala595Gly
XM_011515873.2:c.1781C>G	XP_011514175.1:p.Ala594Gly
XM_011515875.2:c.1757C>G	XP_011514177.1:p.Ala586Gly
XM_011515876.2:c.1838C>G	XP_011514178.1:p.Ala613Gly
XM_011515877.2:c.1727C>G	XP_011514179.1:p.Ala576Gly
XM_017011813.1:c.1751C>G	XP_016867302.1:p.Ala584Gly
XM_017011814.2:c.1739C>G	XP_016867303.1:p.Ala580Gly
NM_000501.4:c.1823C>G MANE Select	NP_000492.2:p.Ala608Gly
NM_001081752.3:c.1736C>G	NP_001075221.1:p.Ala579Gly
NM_001081753.3:c.1781C>G	NP_001075222.1:p.Ala594Gly
NM_001081754.3:c.1838C>G	NP_001075223.1:p.Ala613Gly
NM_001081755.3:c.1766C>G	NP_001075224.1:p.Ala589Gly
NM_001278912.2:c.1823C>G	NP_001265841.1:p.Ala608Gly
NM_001278913.2:c.1580C>G	NP_001265842.1:p.Ala527Gly
NM_001278914.2:c.1751C>G	NP_001265843.1:p.Ala584Gly
NM_001278915.2:c.1841C>G	NP_001265844.1:p.Ala614Gly
NM_001278916.2:c.1679C>G	NP_001265845.1:p.Ala560Gly
NM_001278917.2:c.1793C>G	NP_001265846.1:p.Ala598Gly
NM_001278918.2:c.1556C>G	NP_001265847.1:p.Ala519Gly
NM_001278939.2:c.2009C>G	NP_001265868.1:p.Ala670Gly