Canonical Allele Identifier: CA367891982

Gene: ELN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2327G>C	ENSP00000510104.1:p.Cys776Ser
ENST00000252034.12:c.2141G>C MANE Select	ENSP00000252034.7:p.Cys714Ser
ENST00000252034.11:c.2141G>C	ENSP00000252034.7:p.Cys714Ser
ENST00000320399.10:c.2240G>C	ENSP00000313565.6:p.Cys747Ser
ENST00000320492.11:c.1898G>C	ENSP00000315607.7:p.Cys633Ser
ENST00000357036.9:c.2102G>C	ENSP00000349540.5:p.Cys701Ser
ENST00000358929.8:c.2327G>C	ENSP00000351807.5:p.Cys776Ser
ENST00000380553.8:c.1679G>C	ENSP00000369926.4:p.Cys560Ser
ENST00000380562.8:c.2159G>C	ENSP00000369936.4:p.Cys720Ser
ENST00000380575.8:c.2000G>C	ENSP00000369949.4:p.Cys667Ser
ENST00000380576.9:c.2084G>C	ENSP00000369950.5:p.Cys695Ser
ENST00000380584.8:c.1943G>C	ENSP00000369958.4:p.Cys648Ser
ENST00000414324.5:c.2069G>C	ENSP00000392575.1:p.Cys690Ser
ENST00000429192.5:c.2045G>C	ENSP00000391129.1:p.Cys682Ser
ENST00000445912.5:c.2087G>C	ENSP00000389857.1:p.Cys696Ser
ENST00000458204.5:c.2111G>C	ENSP00000403162.1:p.Cys704Ser
ENST00000621115.4:c.1820G>C	ENSP00000480955.1:p.Cys607Ser
NM_000501.3:c.2141G>C	NP_000492.2:p.Cys714Ser
NM_001081752.2:c.2000G>C	NP_001075221.1:p.Cys667Ser
NM_001081753.2:c.2045G>C	NP_001075222.1:p.Cys682Ser
NM_001081754.2:c.2102G>C	NP_001075223.1:p.Cys701Ser
NM_001081755.2:c.2084G>C	NP_001075224.1:p.Cys695Ser
NM_001278912.1:c.2087G>C	NP_001265841.1:p.Cys696Ser
NM_001278913.1:c.1898G>C	NP_001265842.1:p.Cys633Ser
NM_001278914.1:c.2069G>C	NP_001265843.1:p.Cys690Ser
NM_001278915.1:c.2159G>C	NP_001265844.1:p.Cys720Ser
NM_001278916.1:c.1943G>C	NP_001265845.1:p.Cys648Ser
NM_001278917.1:c.2111G>C	NP_001265846.1:p.Cys704Ser
NM_001278918.1:c.1820G>C	NP_001265847.1:p.Cys607Ser
NM_001278939.1:c.2327G>C	NP_001265868.1:p.Cys776Ser
XM_005250187.1:c.2105G>C	XP_005250244.1:p.Cys702Ser
XM_005250188.1:c.2099G>C	XP_005250245.1:p.Cys700Ser
XM_011515868.1:c.2156G>C	XP_011514170.1:p.Cys719Ser
XM_011515869.1:c.2126G>C	XP_011514171.1:p.Cys709Ser
XM_011515870.1:c.2120G>C	XP_011514172.1:p.Cys707Ser
XM_011515871.1:c.2114G>C	XP_011514173.1:p.Cys705Ser
XM_011515872.1:c.2102G>C	XP_011514174.1:p.Cys701Ser
XM_011515873.1:c.2099G>C	XP_011514175.1:p.Cys700Ser
XM_011515874.1:c.2090G>C	XP_011514176.1:p.Cys697Ser
XM_011515875.1:c.2075G>C	XP_011514177.1:p.Cys692Ser
XM_011515876.1:c.2057G>C	XP_011514178.1:p.Cys686Ser
XM_011515877.1:c.2045G>C	XP_011514179.1:p.Cys682Ser
XM_005250187.2:c.2105G>C	XP_005250244.1:p.Cys702Ser
XM_005250188.2:c.2099G>C	XP_005250245.1:p.Cys700Ser
XM_011515868.2:c.2156G>C	XP_011514170.1:p.Cys719Ser
XM_011515871.2:c.2114G>C	XP_011514173.1:p.Cys705Ser
XM_011515872.2:c.2102G>C	XP_011514174.1:p.Cys701Ser
XM_011515873.2:c.2099G>C	XP_011514175.1:p.Cys700Ser
XM_011515875.2:c.2075G>C	XP_011514177.1:p.Cys692Ser
XM_011515876.2:c.2057G>C	XP_011514178.1:p.Cys686Ser
XM_011515877.2:c.2045G>C	XP_011514179.1:p.Cys682Ser
XM_017011813.1:c.2069G>C	XP_016867302.1:p.Cys690Ser
XM_017011814.2:c.2057G>C	XP_016867303.1:p.Cys686Ser
NM_000501.4:c.2141G>C MANE Select	NP_000492.2:p.Cys714Ser
NM_001081752.3:c.2000G>C	NP_001075221.1:p.Cys667Ser
NM_001081753.3:c.2045G>C	NP_001075222.1:p.Cys682Ser
NM_001081754.3:c.2102G>C	NP_001075223.1:p.Cys701Ser
NM_001081755.3:c.2084G>C	NP_001075224.1:p.Cys695Ser
NM_001278912.2:c.2087G>C	NP_001265841.1:p.Cys696Ser
NM_001278913.2:c.1898G>C	NP_001265842.1:p.Cys633Ser
NM_001278914.2:c.2069G>C	NP_001265843.1:p.Cys690Ser
NM_001278915.2:c.2159G>C	NP_001265844.1:p.Cys720Ser
NM_001278916.2:c.1943G>C	NP_001265845.1:p.Cys648Ser
NM_001278917.2:c.2111G>C	NP_001265846.1:p.Cys704Ser
NM_001278918.2:c.1820G>C	NP_001265847.1:p.Cys607Ser
NM_001278939.2:c.2327G>C	NP_001265868.1:p.Cys776Ser