Canonical Allele Identifier: CA367889342

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73477501T>C (hg19) ; chr7:g.74063171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063171T>C , CM000669.2:g.74063171T>C	GRCh38
NC_000007.13:g.73477501T>C , CM000669.1:g.73477501T>C	GRCh37
NC_000007.12:g.73115437T>C	NCBI36
NG_009261.1:g.40075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1991T>C	ENSP00000510104.1:p.Val664Ala
ENST00000252034.12:c.1805T>C MANE Select	ENSP00000252034.7:p.Val602Ala
ENST00000252034.11:c.1805T>C	ENSP00000252034.7:p.Val602Ala
ENST00000320399.10:c.1904T>C	ENSP00000313565.6:p.Val635Ala
ENST00000320492.11:c.1562T>C	ENSP00000315607.7:p.Val521Ala
ENST00000357036.9:c.1820T>C	ENSP00000349540.5:p.Val607Ala
ENST00000358929.8:c.1991T>C	ENSP00000351807.5:p.Val664Ala
ENST00000380553.8:c.1397T>C	ENSP00000369926.4:p.Val466Ala
ENST00000380562.8:c.1823T>C	ENSP00000369936.4:p.Val608Ala
ENST00000380575.8:c.1718T>C	ENSP00000369949.4:p.Val573Ala
ENST00000380576.9:c.1748T>C	ENSP00000369950.5:p.Val583Ala
ENST00000380584.8:c.1661T>C	ENSP00000369958.4:p.Val554Ala
ENST00000414324.5:c.1733T>C	ENSP00000392575.1:p.Val578Ala
ENST00000429192.5:c.1763T>C	ENSP00000391129.1:p.Val588Ala
ENST00000445912.5:c.1805T>C	ENSP00000389857.1:p.Val602Ala
ENST00000458204.5:c.1775T>C	ENSP00000403162.1:p.Val592Ala
ENST00000621115.4:c.1538T>C	ENSP00000480955.1:p.Val513Ala
NM_000501.3:c.1805T>C	NP_000492.2:p.Val602Ala
NM_001081752.2:c.1718T>C	NP_001075221.1:p.Val573Ala
NM_001081753.2:c.1763T>C	NP_001075222.1:p.Val588Ala
NM_001081754.2:c.1820T>C	NP_001075223.1:p.Val607Ala
NM_001081755.2:c.1748T>C	NP_001075224.1:p.Val583Ala
NM_001278912.1:c.1805T>C	NP_001265841.1:p.Val602Ala
NM_001278913.1:c.1562T>C	NP_001265842.1:p.Val521Ala
NM_001278914.1:c.1733T>C	NP_001265843.1:p.Val578Ala
NM_001278915.1:c.1823T>C	NP_001265844.1:p.Val608Ala
NM_001278916.1:c.1661T>C	NP_001265845.1:p.Val554Ala
NM_001278917.1:c.1775T>C	NP_001265846.1:p.Val592Ala
NM_001278918.1:c.1538T>C	NP_001265847.1:p.Val513Ala
NM_001278939.1:c.1991T>C	NP_001265868.1:p.Val664Ala
XM_005250187.1:c.1769T>C	XP_005250244.1:p.Val590Ala
XM_005250188.1:c.1763T>C	XP_005250245.1:p.Val588Ala
XM_011515868.1:c.1820T>C	XP_011514170.1:p.Val607Ala
XM_011515869.1:c.1790T>C	XP_011514171.1:p.Val597Ala
XM_011515870.1:c.1784T>C	XP_011514172.1:p.Val595Ala
XM_011515871.1:c.1778T>C	XP_011514173.1:p.Val593Ala
XM_011515872.1:c.1766T>C	XP_011514174.1:p.Val589Ala
XM_011515873.1:c.1763T>C	XP_011514175.1:p.Val588Ala
XM_011515874.1:c.1754T>C	XP_011514176.1:p.Val585Ala
XM_011515875.1:c.1739T>C	XP_011514177.1:p.Val580Ala
XM_011515876.1:c.1820T>C	XP_011514178.1:p.Val607Ala
XM_011515877.1:c.1709T>C	XP_011514179.1:p.Val570Ala
XM_005250187.2:c.1769T>C	XP_005250244.1:p.Val590Ala
XM_005250188.2:c.1763T>C	XP_005250245.1:p.Val588Ala
XM_011515868.2:c.1820T>C	XP_011514170.1:p.Val607Ala
XM_011515871.2:c.1778T>C	XP_011514173.1:p.Val593Ala
XM_011515872.2:c.1766T>C	XP_011514174.1:p.Val589Ala
XM_011515873.2:c.1763T>C	XP_011514175.1:p.Val588Ala
XM_011515875.2:c.1739T>C	XP_011514177.1:p.Val580Ala
XM_011515876.2:c.1820T>C	XP_011514178.1:p.Val607Ala
XM_011515877.2:c.1709T>C	XP_011514179.1:p.Val570Ala
XM_017011813.1:c.1733T>C	XP_016867302.1:p.Val578Ala
XM_017011814.2:c.1721T>C	XP_016867303.1:p.Val574Ala
NM_000501.4:c.1805T>C MANE Select	NP_000492.2:p.Val602Ala
NM_001081752.3:c.1718T>C	NP_001075221.1:p.Val573Ala
NM_001081753.3:c.1763T>C	NP_001075222.1:p.Val588Ala
NM_001081754.3:c.1820T>C	NP_001075223.1:p.Val607Ala
NM_001081755.3:c.1748T>C	NP_001075224.1:p.Val583Ala
NM_001278912.2:c.1805T>C	NP_001265841.1:p.Val602Ala
NM_001278913.2:c.1562T>C	NP_001265842.1:p.Val521Ala
NM_001278914.2:c.1733T>C	NP_001265843.1:p.Val578Ala
NM_001278915.2:c.1823T>C	NP_001265844.1:p.Val608Ala
NM_001278916.2:c.1661T>C	NP_001265845.1:p.Val554Ala
NM_001278917.2:c.1775T>C	NP_001265846.1:p.Val592Ala
NM_001278918.2:c.1538T>C	NP_001265847.1:p.Val513Ala
NM_001278939.2:c.1991T>C	NP_001265868.1:p.Val664Ala