Canonical Allele Identifier: CA367889355

Gene: ELN

Linked Data

• dbSNP Id: rs1554686019
• gnomAD v2: 7-73477503-C-T
• MyVariant Identifiers: chr7:g.73477503C>T (hg19) ; chr7:g.74063173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063173C>T , CM000669.2:g.74063173C>T	GRCh38
NC_000007.13:g.73477503C>T , CM000669.1:g.73477503C>T	GRCh37
NC_000007.12:g.73115439C>T	NCBI36
NG_009261.1:g.40077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1993C>T	ENSP00000510104.1:p.Leu665Phe
ENST00000252034.12:c.1807C>T MANE Select	ENSP00000252034.7:p.Leu603Phe
ENST00000252034.11:c.1807C>T	ENSP00000252034.7:p.Leu603Phe
ENST00000320399.10:c.1906C>T	ENSP00000313565.6:p.Leu636Phe
ENST00000320492.11:c.1564C>T	ENSP00000315607.7:p.Leu522Phe
ENST00000357036.9:c.1822C>T	ENSP00000349540.5:p.Leu608Phe
ENST00000358929.8:c.1993C>T	ENSP00000351807.5:p.Leu665Phe
ENST00000380553.8:c.1399C>T	ENSP00000369926.4:p.Leu467Phe
ENST00000380562.8:c.1825C>T	ENSP00000369936.4:p.Leu609Phe
ENST00000380575.8:c.1720C>T	ENSP00000369949.4:p.Leu574Phe
ENST00000380576.9:c.1750C>T	ENSP00000369950.5:p.Leu584Phe
ENST00000380584.8:c.1663C>T	ENSP00000369958.4:p.Leu555Phe
ENST00000414324.5:c.1735C>T	ENSP00000392575.1:p.Leu579Phe
ENST00000429192.5:c.1765C>T	ENSP00000391129.1:p.Leu589Phe
ENST00000445912.5:c.1807C>T	ENSP00000389857.1:p.Leu603Phe
ENST00000458204.5:c.1777C>T	ENSP00000403162.1:p.Leu593Phe
ENST00000621115.4:c.1540C>T	ENSP00000480955.1:p.Leu514Phe
NM_000501.3:c.1807C>T	NP_000492.2:p.Leu603Phe
NM_001081752.2:c.1720C>T	NP_001075221.1:p.Leu574Phe
NM_001081753.2:c.1765C>T	NP_001075222.1:p.Leu589Phe
NM_001081754.2:c.1822C>T	NP_001075223.1:p.Leu608Phe
NM_001081755.2:c.1750C>T	NP_001075224.1:p.Leu584Phe
NM_001278912.1:c.1807C>T	NP_001265841.1:p.Leu603Phe
NM_001278913.1:c.1564C>T	NP_001265842.1:p.Leu522Phe
NM_001278914.1:c.1735C>T	NP_001265843.1:p.Leu579Phe
NM_001278915.1:c.1825C>T	NP_001265844.1:p.Leu609Phe
NM_001278916.1:c.1663C>T	NP_001265845.1:p.Leu555Phe
NM_001278917.1:c.1777C>T	NP_001265846.1:p.Leu593Phe
NM_001278918.1:c.1540C>T	NP_001265847.1:p.Leu514Phe
NM_001278939.1:c.1993C>T	NP_001265868.1:p.Leu665Phe
XM_005250187.1:c.1771C>T	XP_005250244.1:p.Leu591Phe
XM_005250188.1:c.1765C>T	XP_005250245.1:p.Leu589Phe
XM_011515868.1:c.1822C>T	XP_011514170.1:p.Leu608Phe
XM_011515869.1:c.1792C>T	XP_011514171.1:p.Leu598Phe
XM_011515870.1:c.1786C>T	XP_011514172.1:p.Leu596Phe
XM_011515871.1:c.1780C>T	XP_011514173.1:p.Leu594Phe
XM_011515872.1:c.1768C>T	XP_011514174.1:p.Leu590Phe
XM_011515873.1:c.1765C>T	XP_011514175.1:p.Leu589Phe
XM_011515874.1:c.1756C>T	XP_011514176.1:p.Leu586Phe
XM_011515875.1:c.1741C>T	XP_011514177.1:p.Leu581Phe
XM_011515876.1:c.1822C>T	XP_011514178.1:p.Leu608Phe
XM_011515877.1:c.1711C>T	XP_011514179.1:p.Leu571Phe
XM_005250187.2:c.1771C>T	XP_005250244.1:p.Leu591Phe
XM_005250188.2:c.1765C>T	XP_005250245.1:p.Leu589Phe
XM_011515868.2:c.1822C>T	XP_011514170.1:p.Leu608Phe
XM_011515871.2:c.1780C>T	XP_011514173.1:p.Leu594Phe
XM_011515872.2:c.1768C>T	XP_011514174.1:p.Leu590Phe
XM_011515873.2:c.1765C>T	XP_011514175.1:p.Leu589Phe
XM_011515875.2:c.1741C>T	XP_011514177.1:p.Leu581Phe
XM_011515876.2:c.1822C>T	XP_011514178.1:p.Leu608Phe
XM_011515877.2:c.1711C>T	XP_011514179.1:p.Leu571Phe
XM_017011813.1:c.1735C>T	XP_016867302.1:p.Leu579Phe
XM_017011814.2:c.1723C>T	XP_016867303.1:p.Leu575Phe
NM_000501.4:c.1807C>T MANE Select	NP_000492.2:p.Leu603Phe
NM_001081752.3:c.1720C>T	NP_001075221.1:p.Leu574Phe
NM_001081753.3:c.1765C>T	NP_001075222.1:p.Leu589Phe
NM_001081754.3:c.1822C>T	NP_001075223.1:p.Leu608Phe
NM_001081755.3:c.1750C>T	NP_001075224.1:p.Leu584Phe
NM_001278912.2:c.1807C>T	NP_001265841.1:p.Leu603Phe
NM_001278913.2:c.1564C>T	NP_001265842.1:p.Leu522Phe
NM_001278914.2:c.1735C>T	NP_001265843.1:p.Leu579Phe
NM_001278915.2:c.1825C>T	NP_001265844.1:p.Leu609Phe
NM_001278916.2:c.1663C>T	NP_001265845.1:p.Leu555Phe
NM_001278917.2:c.1777C>T	NP_001265846.1:p.Leu593Phe
NM_001278918.2:c.1540C>T	NP_001265847.1:p.Leu514Phe
NM_001278939.2:c.1993C>T	NP_001265868.1:p.Leu665Phe