Canonical Allele Identifier: CA367881457

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73469064C>G (hg19) ; chr7:g.74054734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74054734C>G , CM000669.2:g.74054734C>G	GRCh38
NC_000007.13:g.73469064C>G , CM000669.1:g.73469064C>G	GRCh37
NC_000007.12:g.73107000C>G	NCBI36
NG_009261.1:g.31638C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1115C>G	ENSP00000510104.1:p.Ala372Gly
ENST00000252034.12:c.1115C>G MANE Select	ENSP00000252034.7:p.Ala372Gly
ENST00000252034.11:c.1115C>G	ENSP00000252034.7:p.Ala372Gly
ENST00000320399.10:c.1115C>G	ENSP00000313565.6:p.Ala372Gly
ENST00000320492.11:c.1007C>G	ENSP00000315607.7:p.Ala336Gly
ENST00000357036.9:c.1130C>G	ENSP00000349540.5:p.Ala377Gly
ENST00000358929.8:c.1115C>G	ENSP00000351807.5:p.Ala372Gly
ENST00000380553.8:c.764C>G	ENSP00000369926.4:p.Ala255Gly
ENST00000380562.8:c.1115C>G	ENSP00000369936.4:p.Ala372Gly
ENST00000380575.8:c.1085C>G	ENSP00000369949.4:p.Ala362Gly
ENST00000380576.9:c.1115C>G	ENSP00000369950.5:p.Ala372Gly
ENST00000380584.8:c.1073C>G	ENSP00000369958.4:p.Ala358Gly
ENST00000414324.5:c.1100C>G	ENSP00000392575.1:p.Ala367Gly
ENST00000429192.5:c.1130C>G	ENSP00000391129.1:p.Ala377Gly
ENST00000445912.5:c.1115C>G	ENSP00000389857.1:p.Ala372Gly
ENST00000458204.5:c.1085C>G	ENSP00000403162.1:p.Ala362Gly
ENST00000466878.5:n.434C>G
ENST00000492210.1:n.478C>G
ENST00000621115.4:c.983C>G	ENSP00000480955.1:p.Ala328Gly
NM_000501.3:c.1115C>G	NP_000492.2:p.Ala372Gly
NM_001081752.2:c.1085C>G	NP_001075221.1:p.Ala362Gly
NM_001081753.2:c.1130C>G	NP_001075222.1:p.Ala377Gly
NM_001081754.2:c.1130C>G	NP_001075223.1:p.Ala377Gly
NM_001081755.2:c.1115C>G	NP_001075224.1:p.Ala372Gly
NM_001278912.1:c.1115C>G	NP_001265841.1:p.Ala372Gly
NM_001278913.1:c.1007C>G	NP_001265842.1:p.Ala336Gly
NM_001278914.1:c.1100C>G	NP_001265843.1:p.Ala367Gly
NM_001278915.1:c.1115C>G	NP_001265844.1:p.Ala372Gly
NM_001278916.1:c.1073C>G	NP_001265845.1:p.Ala358Gly
NM_001278917.1:c.1085C>G	NP_001265846.1:p.Ala362Gly
NM_001278918.1:c.983C>G	NP_001265847.1:p.Ala328Gly
NM_001278939.1:c.1115C>G	NP_001265868.1:p.Ala372Gly
XM_005250187.1:c.1079C>G	XP_005250244.1:p.Ala360Gly
XM_005250188.1:c.1073C>G	XP_005250245.1:p.Ala358Gly
XM_011515868.1:c.1130C>G	XP_011514170.1:p.Ala377Gly
XM_011515869.1:c.1100C>G	XP_011514171.1:p.Ala367Gly
XM_011515870.1:c.1094C>G	XP_011514172.1:p.Ala365Gly
XM_011515871.1:c.1088C>G	XP_011514173.1:p.Ala363Gly
XM_011515872.1:c.1111+1425C>G	XP_011514174.1:n.1111+1425C>G
XM_011515873.1:c.1130C>G	XP_011514175.1:p.Ala377Gly
XM_011515874.1:c.1064C>G	XP_011514176.1:p.Ala355Gly
XM_011515875.1:c.1049C>G	XP_011514177.1:p.Ala350Gly
XM_011515876.1:c.1130C>G	XP_011514178.1:p.Ala377Gly
XM_011515877.1:c.1111+1425C>G	XP_011514179.1:n.1111+1425C>G
XM_005250187.2:c.1079C>G	XP_005250244.1:p.Ala360Gly
XM_005250188.2:c.1073C>G	XP_005250245.1:p.Ala358Gly
XM_011515868.2:c.1130C>G	XP_011514170.1:p.Ala377Gly
XM_011515871.2:c.1088C>G	XP_011514173.1:p.Ala363Gly
XM_011515872.2:c.1111+1425C>G	XP_011514174.1:n.1111+1425C>G
XM_011515873.2:c.1130C>G	XP_011514175.1:p.Ala377Gly
XM_011515875.2:c.1049C>G	XP_011514177.1:p.Ala350Gly
XM_011515876.2:c.1130C>G	XP_011514178.1:p.Ala377Gly
XM_011515877.2:c.1111+1425C>G	XP_011514179.1:n.1111+1425C>G
XM_017011813.1:c.1043C>G	XP_016867302.1:p.Ala348Gly
XM_017011814.2:c.1088C>G	XP_016867303.1:p.Ala363Gly
NM_000501.4:c.1115C>G MANE Select	NP_000492.2:p.Ala372Gly
NM_001081752.3:c.1085C>G	NP_001075221.1:p.Ala362Gly
NM_001081753.3:c.1130C>G	NP_001075222.1:p.Ala377Gly
NM_001081754.3:c.1130C>G	NP_001075223.1:p.Ala377Gly
NM_001081755.3:c.1115C>G	NP_001075224.1:p.Ala372Gly
NM_001278912.2:c.1115C>G	NP_001265841.1:p.Ala372Gly
NM_001278913.2:c.1007C>G	NP_001265842.1:p.Ala336Gly
NM_001278914.2:c.1100C>G	NP_001265843.1:p.Ala367Gly
NM_001278915.2:c.1115C>G	NP_001265844.1:p.Ala372Gly
NM_001278916.2:c.1073C>G	NP_001265845.1:p.Ala358Gly
NM_001278917.2:c.1085C>G	NP_001265846.1:p.Ala362Gly
NM_001278918.2:c.983C>G	NP_001265847.1:p.Ala328Gly
NM_001278939.2:c.1115C>G	NP_001265868.1:p.Ala372Gly