Canonical Allele Identifier: CA160114754

Gene: ELN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74068666G>A , CM000669.2:g.74068666G>A	GRCh38
NC_000007.13:g.73482996G>A , CM000669.1:g.73482996G>A	GRCh37
NC_000007.12:g.73120932G>A	NCBI36
NG_009261.1:g.45570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2327G>A	ENSP00000510104.1:p.Cys776Tyr
ENST00000252034.12:c.2141G>A MANE Select	ENSP00000252034.7:p.Cys714Tyr
ENST00000252034.11:c.2141G>A	ENSP00000252034.7:p.Cys714Tyr
ENST00000320399.10:c.2240G>A	ENSP00000313565.6:p.Cys747Tyr
ENST00000320492.11:c.1898G>A	ENSP00000315607.7:p.Cys633Tyr
ENST00000357036.9:c.2102G>A	ENSP00000349540.5:p.Cys701Tyr
ENST00000358929.8:c.2327G>A	ENSP00000351807.5:p.Cys776Tyr
ENST00000380553.8:c.1679G>A	ENSP00000369926.4:p.Cys560Tyr
ENST00000380562.8:c.2159G>A	ENSP00000369936.4:p.Cys720Tyr
ENST00000380575.8:c.2000G>A	ENSP00000369949.4:p.Cys667Tyr
ENST00000380576.9:c.2084G>A	ENSP00000369950.5:p.Cys695Tyr
ENST00000380584.8:c.1943G>A	ENSP00000369958.4:p.Cys648Tyr
ENST00000414324.5:c.2069G>A	ENSP00000392575.1:p.Cys690Tyr
ENST00000429192.5:c.2045G>A	ENSP00000391129.1:p.Cys682Tyr
ENST00000445912.5:c.2087G>A	ENSP00000389857.1:p.Cys696Tyr
ENST00000458204.5:c.2111G>A	ENSP00000403162.1:p.Cys704Tyr
ENST00000621115.4:c.1820G>A	ENSP00000480955.1:p.Cys607Tyr
NM_000501.3:c.2141G>A	NP_000492.2:p.Cys714Tyr
NM_001081752.2:c.2000G>A	NP_001075221.1:p.Cys667Tyr
NM_001081753.2:c.2045G>A	NP_001075222.1:p.Cys682Tyr
NM_001081754.2:c.2102G>A	NP_001075223.1:p.Cys701Tyr
NM_001081755.2:c.2084G>A	NP_001075224.1:p.Cys695Tyr
NM_001278912.1:c.2087G>A	NP_001265841.1:p.Cys696Tyr
NM_001278913.1:c.1898G>A	NP_001265842.1:p.Cys633Tyr
NM_001278914.1:c.2069G>A	NP_001265843.1:p.Cys690Tyr
NM_001278915.1:c.2159G>A	NP_001265844.1:p.Cys720Tyr
NM_001278916.1:c.1943G>A	NP_001265845.1:p.Cys648Tyr
NM_001278917.1:c.2111G>A	NP_001265846.1:p.Cys704Tyr
NM_001278918.1:c.1820G>A	NP_001265847.1:p.Cys607Tyr
NM_001278939.1:c.2327G>A	NP_001265868.1:p.Cys776Tyr
XM_005250187.1:c.2105G>A	XP_005250244.1:p.Cys702Tyr
XM_005250188.1:c.2099G>A	XP_005250245.1:p.Cys700Tyr
XM_011515868.1:c.2156G>A	XP_011514170.1:p.Cys719Tyr
XM_011515869.1:c.2126G>A	XP_011514171.1:p.Cys709Tyr
XM_011515870.1:c.2120G>A	XP_011514172.1:p.Cys707Tyr
XM_011515871.1:c.2114G>A	XP_011514173.1:p.Cys705Tyr
XM_011515872.1:c.2102G>A	XP_011514174.1:p.Cys701Tyr
XM_011515873.1:c.2099G>A	XP_011514175.1:p.Cys700Tyr
XM_011515874.1:c.2090G>A	XP_011514176.1:p.Cys697Tyr
XM_011515875.1:c.2075G>A	XP_011514177.1:p.Cys692Tyr
XM_011515876.1:c.2057G>A	XP_011514178.1:p.Cys686Tyr
XM_011515877.1:c.2045G>A	XP_011514179.1:p.Cys682Tyr
XM_005250187.2:c.2105G>A	XP_005250244.1:p.Cys702Tyr
XM_005250188.2:c.2099G>A	XP_005250245.1:p.Cys700Tyr
XM_011515868.2:c.2156G>A	XP_011514170.1:p.Cys719Tyr
XM_011515871.2:c.2114G>A	XP_011514173.1:p.Cys705Tyr
XM_011515872.2:c.2102G>A	XP_011514174.1:p.Cys701Tyr
XM_011515873.2:c.2099G>A	XP_011514175.1:p.Cys700Tyr
XM_011515875.2:c.2075G>A	XP_011514177.1:p.Cys692Tyr
XM_011515876.2:c.2057G>A	XP_011514178.1:p.Cys686Tyr
XM_011515877.2:c.2045G>A	XP_011514179.1:p.Cys682Tyr
XM_017011813.1:c.2069G>A	XP_016867302.1:p.Cys690Tyr
XM_017011814.2:c.2057G>A	XP_016867303.1:p.Cys686Tyr
NM_000501.4:c.2141G>A MANE Select	NP_000492.2:p.Cys714Tyr
NM_001081752.3:c.2000G>A	NP_001075221.1:p.Cys667Tyr
NM_001081753.3:c.2045G>A	NP_001075222.1:p.Cys682Tyr
NM_001081754.3:c.2102G>A	NP_001075223.1:p.Cys701Tyr
NM_001081755.3:c.2084G>A	NP_001075224.1:p.Cys695Tyr
NM_001278912.2:c.2087G>A	NP_001265841.1:p.Cys696Tyr
NM_001278913.2:c.1898G>A	NP_001265842.1:p.Cys633Tyr
NM_001278914.2:c.2069G>A	NP_001265843.1:p.Cys690Tyr
NM_001278915.2:c.2159G>A	NP_001265844.1:p.Cys720Tyr
NM_001278916.2:c.1943G>A	NP_001265845.1:p.Cys648Tyr
NM_001278917.2:c.2111G>A	NP_001265846.1:p.Cys704Tyr
NM_001278918.2:c.1820G>A	NP_001265847.1:p.Cys607Tyr
NM_001278939.2:c.2327G>A	NP_001265868.1:p.Cys776Tyr