Canonical Allele Identifier: CA367881564

Gene: ELN

Linked Data

• dbSNP Id: rs2131999340
• gnomAD v3: 7-74054767-A-G
• gnomAD v4: 7-74054767-A-G
• MyVariant Identifiers: chr7:g.73469097A>G (hg19) ; chr7:g.74054767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74054767A>G , CM000669.2:g.74054767A>G	GRCh38
NC_000007.13:g.73469097A>G , CM000669.1:g.73469097A>G	GRCh37
NC_000007.12:g.73107033A>G	NCBI36
NG_009261.1:g.31671A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000692049.1:c.1148A>G	ENSP00000510104.1:p.Tyr383Cys
ENST00000252034.12:c.1148A>G MANE Select	ENSP00000252034.7:p.Tyr383Cys
ENST00000252034.11:c.1148A>G	ENSP00000252034.7:p.Tyr383Cys
ENST00000320399.10:c.1148A>G	ENSP00000313565.6:p.Tyr383Cys
ENST00000320492.11:c.1040A>G	ENSP00000315607.7:p.Tyr347Cys
ENST00000357036.9:c.1163A>G	ENSP00000349540.5:p.Tyr388Cys
ENST00000358929.8:c.1148A>G	ENSP00000351807.5:p.Tyr383Cys
ENST00000380553.8:c.797A>G	ENSP00000369926.4:p.Tyr266Cys
ENST00000380562.8:c.1148A>G	ENSP00000369936.4:p.Tyr383Cys
ENST00000380575.8:c.1118A>G	ENSP00000369949.4:p.Tyr373Cys
ENST00000380576.9:c.1148A>G	ENSP00000369950.5:p.Tyr383Cys
ENST00000380584.8:c.1106A>G	ENSP00000369958.4:p.Tyr369Cys
ENST00000414324.5:c.1133A>G	ENSP00000392575.1:p.Tyr378Cys
ENST00000429192.5:c.1163A>G	ENSP00000391129.1:p.Tyr388Cys
ENST00000445912.5:c.1148A>G	ENSP00000389857.1:p.Tyr383Cys
ENST00000458204.5:c.1118A>G	ENSP00000403162.1:p.Tyr373Cys
ENST00000466878.5:n.467A>G
ENST00000492210.1:n.511A>G
ENST00000621115.4:c.1016A>G	ENSP00000480955.1:p.Tyr339Cys
NM_000501.3:c.1148A>G	NP_000492.2:p.Tyr383Cys
NM_001081752.2:c.1118A>G	NP_001075221.1:p.Tyr373Cys
NM_001081753.2:c.1163A>G	NP_001075222.1:p.Tyr388Cys
NM_001081754.2:c.1163A>G	NP_001075223.1:p.Tyr388Cys
NM_001081755.2:c.1148A>G	NP_001075224.1:p.Tyr383Cys
NM_001278912.1:c.1148A>G	NP_001265841.1:p.Tyr383Cys
NM_001278913.1:c.1040A>G	NP_001265842.1:p.Tyr347Cys
NM_001278914.1:c.1133A>G	NP_001265843.1:p.Tyr378Cys
NM_001278915.1:c.1148A>G	NP_001265844.1:p.Tyr383Cys
NM_001278916.1:c.1106A>G	NP_001265845.1:p.Tyr369Cys
NM_001278917.1:c.1118A>G	NP_001265846.1:p.Tyr373Cys
NM_001278918.1:c.1016A>G	NP_001265847.1:p.Tyr339Cys
NM_001278939.1:c.1148A>G	NP_001265868.1:p.Tyr383Cys
XM_005250187.1:c.1112A>G	XP_005250244.1:p.Tyr371Cys
XM_005250188.1:c.1106A>G	XP_005250245.1:p.Tyr369Cys
XM_011515868.1:c.1163A>G	XP_011514170.1:p.Tyr388Cys
XM_011515869.1:c.1133A>G	XP_011514171.1:p.Tyr378Cys
XM_011515870.1:c.1127A>G	XP_011514172.1:p.Tyr376Cys
XM_011515871.1:c.1121A>G	XP_011514173.1:p.Tyr374Cys
XM_011515872.1:c.1111+1458A>G	XP_011514174.1:n.1111+1458A>G
XM_011515873.1:c.1163A>G	XP_011514175.1:p.Tyr388Cys
XM_011515874.1:c.1097A>G	XP_011514176.1:p.Tyr366Cys
XM_011515875.1:c.1082A>G	XP_011514177.1:p.Tyr361Cys
XM_011515876.1:c.1163A>G	XP_011514178.1:p.Tyr388Cys
XM_011515877.1:c.1111+1458A>G	XP_011514179.1:n.1111+1458A>G
XM_005250187.2:c.1112A>G	XP_005250244.1:p.Tyr371Cys
XM_005250188.2:c.1106A>G	XP_005250245.1:p.Tyr369Cys
XM_011515868.2:c.1163A>G	XP_011514170.1:p.Tyr388Cys
XM_011515871.2:c.1121A>G	XP_011514173.1:p.Tyr374Cys
XM_011515872.2:c.1111+1458A>G	XP_011514174.1:n.1111+1458A>G
XM_011515873.2:c.1163A>G	XP_011514175.1:p.Tyr388Cys
XM_011515875.2:c.1082A>G	XP_011514177.1:p.Tyr361Cys
XM_011515876.2:c.1163A>G	XP_011514178.1:p.Tyr388Cys
XM_011515877.2:c.1111+1458A>G	XP_011514179.1:n.1111+1458A>G
XM_017011813.1:c.1076A>G	XP_016867302.1:p.Tyr359Cys
XM_017011814.2:c.1121A>G	XP_016867303.1:p.Tyr374Cys
NM_000501.4:c.1148A>G MANE Select	NP_000492.2:p.Tyr383Cys
NM_001081752.3:c.1118A>G	NP_001075221.1:p.Tyr373Cys
NM_001081753.3:c.1163A>G	NP_001075222.1:p.Tyr388Cys
NM_001081754.3:c.1163A>G	NP_001075223.1:p.Tyr388Cys
NM_001081755.3:c.1148A>G	NP_001075224.1:p.Tyr383Cys
NM_001278912.2:c.1148A>G	NP_001265841.1:p.Tyr383Cys
NM_001278913.2:c.1040A>G	NP_001265842.1:p.Tyr347Cys
NM_001278914.2:c.1133A>G	NP_001265843.1:p.Tyr378Cys
NM_001278915.2:c.1148A>G	NP_001265844.1:p.Tyr383Cys
NM_001278916.2:c.1106A>G	NP_001265845.1:p.Tyr369Cys
NM_001278917.2:c.1118A>G	NP_001265846.1:p.Tyr373Cys
NM_001278918.2:c.1016A>G	NP_001265847.1:p.Tyr339Cys
NM_001278939.2:c.1148A>G	NP_001265868.1:p.Tyr383Cys