Canonical Allele Identifier: CA4292523

Gene: ELN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74045230T>C , CM000669.2:g.74045230T>C	GRCh38
NC_000007.13:g.73459560T>C , CM000669.1:g.73459560T>C	GRCh37
NC_000007.12:g.73097496T>C	NCBI36
NG_009261.1:g.22134T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000501.4:c.478T>C MANE Select	NP_000492.2:p.Phe160Leu
ENST00000252034.12:c.478T>C MANE Select	ENSP00000252034.7:p.Phe160Leu
NM_000501.3:c.478T>C	NP_000492.2:p.Phe160Leu
NM_001081752.2:c.448T>C	NP_001075221.1:p.Phe150Leu
NM_001081752.3:c.448T>C	NP_001075221.1:p.Phe150Leu
NM_001081753.2:c.493T>C	NP_001075222.1:p.Phe165Leu
NM_001081753.3:c.493T>C	NP_001075222.1:p.Phe165Leu
NM_001081754.2:c.493T>C	NP_001075223.1:p.Phe165Leu
NM_001081754.3:c.493T>C	NP_001075223.1:p.Phe165Leu
NM_001081755.2:c.478T>C	NP_001075224.1:p.Phe160Leu
NM_001081755.3:c.478T>C	NP_001075224.1:p.Phe160Leu
NM_001278912.1:c.478T>C	NP_001265841.1:p.Phe160Leu
NM_001278912.2:c.478T>C	NP_001265841.1:p.Phe160Leu
NM_001278913.1:c.442T>C	NP_001265842.1:p.Phe148Leu
NM_001278913.2:c.442T>C	NP_001265842.1:p.Phe148Leu
NM_001278914.1:c.463T>C	NP_001265843.1:p.Phe155Leu
NM_001278914.2:c.463T>C	NP_001265843.1:p.Phe155Leu
NM_001278915.1:c.478T>C	NP_001265844.1:p.Phe160Leu
NM_001278915.2:c.478T>C	NP_001265844.1:p.Phe160Leu
NM_001278916.1:c.478T>C	NP_001265845.1:p.Phe160Leu
NM_001278916.2:c.478T>C	NP_001265845.1:p.Phe160Leu
NM_001278917.1:c.448T>C	NP_001265846.1:p.Phe150Leu
NM_001278917.2:c.448T>C	NP_001265846.1:p.Phe150Leu
NM_001278918.1:c.439+1310T>C	NP_001265847.1:n.439+1310T>C
NM_001278918.2:c.439+1310T>C	NP_001265847.1:n.439+1310T>C
NM_001278939.1:c.478T>C	NP_001265868.1:p.Phe160Leu
NM_001278939.2:c.478T>C	NP_001265868.1:p.Phe160Leu
ENST00000252034.11:c.478T>C	ENSP00000252034.7:p.Phe160Leu
ENST00000320399.10:c.478T>C	ENSP00000313565.6:p.Phe160Leu
ENST00000320492.11:c.442T>C	ENSP00000315607.7:p.Phe148Leu
ENST00000357036.9:c.493T>C	ENSP00000349540.5:p.Phe165Leu
ENST00000358929.8:c.478T>C	ENSP00000351807.5:p.Phe160Leu
ENST00000380553.8:c.233-958T>C	ENSP00000369926.4:n.233-958T>C
ENST00000380562.8:c.478T>C	ENSP00000369936.4:p.Phe160Leu
ENST00000380575.8:c.448T>C	ENSP00000369949.4:p.Phe150Leu
ENST00000380576.9:c.478T>C	ENSP00000369950.5:p.Phe160Leu
ENST00000380584.8:c.478T>C	ENSP00000369958.4:p.Phe160Leu
ENST00000414324.5:c.463T>C	ENSP00000392575.1:p.Phe155Leu
ENST00000417091.5:c.469+1310T>C	ENSP00000411092.1:n.469+1310T>C
ENST00000419398.1:c.460T>C	ENSP00000412262.1:n.460T>C
ENST00000428787.5:c.326-1466T>C	ENSP00000399499.1:n.326-1466T>C
ENST00000429192.5:c.493T>C	ENSP00000391129.1:p.Phe165Leu
ENST00000431562.5:c.412T>C	ENSP00000394549.1:p.Phe138Leu
ENST00000438880.5:c.197-1466T>C	ENSP00000389206.1:n.197-1466T>C
ENST00000438906.5:c.442T>C	ENSP00000406949.1:p.Phe148Leu
ENST00000442310.5:c.428-958T>C	ENSP00000403961.1:n.428-958T>C
ENST00000445912.5:c.478T>C	ENSP00000389857.1:p.Phe160Leu
ENST00000458204.5:c.448T>C	ENSP00000403162.1:p.Phe150Leu
ENST00000479432.5:n.457T>C
ENST00000621115.4:c.439+1310T>C	ENSP00000480955.1:n.439+1310T>C
ENST00000692049.1:c.478T>C	ENSP00000510104.1:p.Phe160Leu
XM_005250187.1:c.442T>C	XP_005250244.1:p.Phe148Leu
XM_005250187.2:c.442T>C	XP_005250244.1:p.Phe148Leu
XM_005250188.1:c.478T>C	XP_005250245.1:p.Phe160Leu
XM_005250188.2:c.478T>C	XP_005250245.1:p.Phe160Leu
XM_011515868.1:c.493T>C	XP_011514170.1:p.Phe165Leu
XM_011515868.2:c.493T>C	XP_011514170.1:p.Phe165Leu
XM_011515869.1:c.463T>C	XP_011514171.1:p.Phe155Leu
XM_011515870.1:c.457T>C	XP_011514172.1:p.Phe153Leu
XM_011515871.1:c.493T>C	XP_011514173.1:p.Phe165Leu
XM_011515871.2:c.493T>C	XP_011514173.1:p.Phe165Leu
XM_011515872.1:c.493T>C	XP_011514174.1:p.Phe165Leu
XM_011515872.2:c.493T>C	XP_011514174.1:p.Phe165Leu
XM_011515873.1:c.493T>C	XP_011514175.1:p.Phe165Leu
XM_011515873.2:c.493T>C	XP_011514175.1:p.Phe165Leu
XM_011515874.1:c.427T>C	XP_011514176.1:p.Phe143Leu
XM_011515875.1:c.412T>C	XP_011514177.1:p.Phe138Leu
XM_011515875.2:c.412T>C	XP_011514177.1:p.Phe138Leu
XM_011515876.1:c.493T>C	XP_011514178.1:p.Phe165Leu
XM_011515876.2:c.493T>C	XP_011514178.1:p.Phe165Leu
XM_011515877.1:c.493T>C	XP_011514179.1:p.Phe165Leu
XM_011515877.2:c.493T>C	XP_011514179.1:p.Phe165Leu
XM_017011813.1:c.448T>C	XP_016867302.1:p.Phe150Leu
XM_017011814.2:c.493T>C	XP_016867303.1:p.Phe165Leu