Canonical Allele Identifier: CA455884307

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73462030A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74047700A>T , CM000669.2:g.74047700A>T	GRCh38
NC_000007.13:g.73462030A>T , CM000669.1:g.73462030A>T	GRCh37
NC_000007.12:g.73099966A>T	NCBI36
NG_009261.1:g.24604A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000692049.1:c.669A>T	ENSP00000510104.1:p.Thr223=
ENST00000252034.12:c.669A>T MANE Select	ENSP00000252034.7:p.Thr223=
ENST00000252034.11:c.669A>T	ENSP00000252034.7:p.Thr223=
ENST00000320399.10:c.669A>T	ENSP00000313565.6:p.Thr223=
ENST00000320492.11:c.578-442A>T	ENSP00000315607.7:n.578-442A>T
ENST00000357036.9:c.684A>T	ENSP00000349540.5:p.Thr228=
ENST00000358929.8:c.669A>T	ENSP00000351807.5:p.Thr223=
ENST00000380553.8:c.335-442A>T	ENSP00000369926.4:n.335-442A>T
ENST00000380562.8:c.669A>T	ENSP00000369936.4:p.Thr223=
ENST00000380575.8:c.639A>T	ENSP00000369949.4:p.Thr213=
ENST00000380576.9:c.669A>T	ENSP00000369950.5:p.Thr223=
ENST00000380584.8:c.644-442A>T	ENSP00000369958.4:n.644-442A>T
ENST00000414324.5:c.654A>T	ENSP00000392575.1:p.Thr218=
ENST00000417091.5:c.567A>T	ENSP00000411092.1:p.Thr189=
ENST00000428787.5:c.423A>T	ENSP00000399499.1:p.Thr141=
ENST00000429192.5:c.684A>T	ENSP00000391129.1:p.Thr228=
ENST00000438880.5:c.269-442A>T	ENSP00000389206.1:n.269-442A>T
ENST00000438906.5:c.603A>T	ENSP00000406949.1:p.Thr201=
ENST00000445912.5:c.669A>T	ENSP00000389857.1:p.Thr223=
ENST00000458204.5:c.639A>T	ENSP00000403162.1:p.Thr213=
ENST00000477397.1:n.553A>T
ENST00000493839.1:n.135A>T
ENST00000621115.4:c.537A>T	ENSP00000480955.1:p.Thr179=
NM_000501.3:c.669A>T	NP_000492.2:p.Thr223=
NM_001081752.2:c.639A>T	NP_001075221.1:p.Thr213=
NM_001081753.2:c.684A>T	NP_001075222.1:p.Thr228=
NM_001081754.2:c.684A>T	NP_001075223.1:p.Thr228=
NM_001081755.2:c.669A>T	NP_001075224.1:p.Thr223=
NM_001278912.1:c.669A>T	NP_001265841.1:p.Thr223=
NM_001278913.1:c.578-442A>T	NP_001265842.1:n.578-442A>T
NM_001278914.1:c.654A>T	NP_001265843.1:p.Thr218=
NM_001278915.1:c.669A>T	NP_001265844.1:p.Thr223=
NM_001278916.1:c.644-442A>T	NP_001265845.1:n.644-442A>T
NM_001278917.1:c.639A>T	NP_001265846.1:p.Thr213=
NM_001278918.1:c.537A>T	NP_001265847.1:p.Thr179=
NM_001278939.1:c.669A>T	NP_001265868.1:p.Thr223=
XM_005250187.1:c.633A>T	XP_005250244.1:p.Thr211=
XM_005250188.1:c.644-442A>T	XP_005250245.1:n.644-442A>T
XM_011515868.1:c.684A>T	XP_011514170.1:p.Thr228=
XM_011515869.1:c.654A>T	XP_011514171.1:p.Thr218=
XM_011515870.1:c.648A>T	XP_011514172.1:p.Thr216=
XM_011515871.1:c.659-442A>T	XP_011514173.1:n.659-442A>T
XM_011515872.1:c.684A>T	XP_011514174.1:p.Thr228=
XM_011515873.1:c.684A>T	XP_011514175.1:p.Thr228=
XM_011515874.1:c.618A>T	XP_011514176.1:p.Thr206=
XM_011515875.1:c.603A>T	XP_011514177.1:p.Thr201=
XM_011515876.1:c.684A>T	XP_011514178.1:p.Thr228=
XM_011515877.1:c.684A>T	XP_011514179.1:p.Thr228=
XM_005250187.2:c.633A>T	XP_005250244.1:p.Thr211=
XM_005250188.2:c.644-442A>T	XP_005250245.1:n.644-442A>T
XM_011515868.2:c.684A>T	XP_011514170.1:p.Thr228=
XM_011515871.2:c.659-442A>T	XP_011514173.1:n.659-442A>T
XM_011515872.2:c.684A>T	XP_011514174.1:p.Thr228=
XM_011515873.2:c.684A>T	XP_011514175.1:p.Thr228=
XM_011515875.2:c.603A>T	XP_011514177.1:p.Thr201=
XM_011515876.2:c.684A>T	XP_011514178.1:p.Thr228=
XM_011515877.2:c.684A>T	XP_011514179.1:p.Thr228=
XM_017011813.1:c.614-442A>T	XP_016867302.1:n.614-442A>T
XM_017011814.2:c.659-442A>T	XP_016867303.1:n.659-442A>T
NM_000501.4:c.669A>T MANE Select	NP_000492.2:p.Thr223=
NM_001081752.3:c.639A>T	NP_001075221.1:p.Thr213=
NM_001081753.3:c.684A>T	NP_001075222.1:p.Thr228=
NM_001081754.3:c.684A>T	NP_001075223.1:p.Thr228=
NM_001081755.3:c.669A>T	NP_001075224.1:p.Thr223=
NM_001278912.2:c.669A>T	NP_001265841.1:p.Thr223=
NM_001278913.2:c.578-442A>T	NP_001265842.1:n.578-442A>T
NM_001278914.2:c.654A>T	NP_001265843.1:p.Thr218=
NM_001278915.2:c.669A>T	NP_001265844.1:p.Thr223=
NM_001278916.2:c.644-442A>T	NP_001265845.1:n.644-442A>T
NM_001278917.2:c.639A>T	NP_001265846.1:p.Thr213=
NM_001278918.2:c.537A>T	NP_001265847.1:p.Thr179=
NM_001278939.2:c.669A>T	NP_001265868.1:p.Thr223=