Canonical Allele Identifier: CA367889316

Gene: ELN

Linked Data

• MyVariant Identifiers: chr7:g.73477495C>G (hg19) ; chr7:g.74063165C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063165C>G , CM000669.2:g.74063165C>G	GRCh38
NC_000007.13:g.73477495C>G , CM000669.1:g.73477495C>G	GRCh37
NC_000007.12:g.73115431C>G	NCBI36
NG_009261.1:g.40069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1985C>G	ENSP00000510104.1:p.Pro662Arg
ENST00000252034.12:c.1799C>G MANE Select	ENSP00000252034.7:p.Pro600Arg
ENST00000252034.11:c.1799C>G	ENSP00000252034.7:p.Pro600Arg
ENST00000320399.10:c.1898C>G	ENSP00000313565.6:p.Pro633Arg
ENST00000320492.11:c.1556C>G	ENSP00000315607.7:p.Pro519Arg
ENST00000357036.9:c.1814C>G	ENSP00000349540.5:p.Pro605Arg
ENST00000358929.8:c.1985C>G	ENSP00000351807.5:p.Pro662Arg
ENST00000380553.8:c.1391C>G	ENSP00000369926.4:p.Pro464Arg
ENST00000380562.8:c.1817C>G	ENSP00000369936.4:p.Pro606Arg
ENST00000380575.8:c.1712C>G	ENSP00000369949.4:p.Pro571Arg
ENST00000380576.9:c.1742C>G	ENSP00000369950.5:p.Pro581Arg
ENST00000380584.8:c.1655C>G	ENSP00000369958.4:p.Pro552Arg
ENST00000414324.5:c.1727C>G	ENSP00000392575.1:p.Pro576Arg
ENST00000429192.5:c.1757C>G	ENSP00000391129.1:p.Pro586Arg
ENST00000445912.5:c.1799C>G	ENSP00000389857.1:p.Pro600Arg
ENST00000458204.5:c.1769C>G	ENSP00000403162.1:p.Pro590Arg
ENST00000621115.4:c.1532C>G	ENSP00000480955.1:p.Pro511Arg
NM_000501.3:c.1799C>G	NP_000492.2:p.Pro600Arg
NM_001081752.2:c.1712C>G	NP_001075221.1:p.Pro571Arg
NM_001081753.2:c.1757C>G	NP_001075222.1:p.Pro586Arg
NM_001081754.2:c.1814C>G	NP_001075223.1:p.Pro605Arg
NM_001081755.2:c.1742C>G	NP_001075224.1:p.Pro581Arg
NM_001278912.1:c.1799C>G	NP_001265841.1:p.Pro600Arg
NM_001278913.1:c.1556C>G	NP_001265842.1:p.Pro519Arg
NM_001278914.1:c.1727C>G	NP_001265843.1:p.Pro576Arg
NM_001278915.1:c.1817C>G	NP_001265844.1:p.Pro606Arg
NM_001278916.1:c.1655C>G	NP_001265845.1:p.Pro552Arg
NM_001278917.1:c.1769C>G	NP_001265846.1:p.Pro590Arg
NM_001278918.1:c.1532C>G	NP_001265847.1:p.Pro511Arg
NM_001278939.1:c.1985C>G	NP_001265868.1:p.Pro662Arg
XM_005250187.1:c.1763C>G	XP_005250244.1:p.Pro588Arg
XM_005250188.1:c.1757C>G	XP_005250245.1:p.Pro586Arg
XM_011515868.1:c.1814C>G	XP_011514170.1:p.Pro605Arg
XM_011515869.1:c.1784C>G	XP_011514171.1:p.Pro595Arg
XM_011515870.1:c.1778C>G	XP_011514172.1:p.Pro593Arg
XM_011515871.1:c.1772C>G	XP_011514173.1:p.Pro591Arg
XM_011515872.1:c.1760C>G	XP_011514174.1:p.Pro587Arg
XM_011515873.1:c.1757C>G	XP_011514175.1:p.Pro586Arg
XM_011515874.1:c.1748C>G	XP_011514176.1:p.Pro583Arg
XM_011515875.1:c.1733C>G	XP_011514177.1:p.Pro578Arg
XM_011515876.1:c.1814C>G	XP_011514178.1:p.Pro605Arg
XM_011515877.1:c.1703C>G	XP_011514179.1:p.Pro568Arg
XM_005250187.2:c.1763C>G	XP_005250244.1:p.Pro588Arg
XM_005250188.2:c.1757C>G	XP_005250245.1:p.Pro586Arg
XM_011515868.2:c.1814C>G	XP_011514170.1:p.Pro605Arg
XM_011515871.2:c.1772C>G	XP_011514173.1:p.Pro591Arg
XM_011515872.2:c.1760C>G	XP_011514174.1:p.Pro587Arg
XM_011515873.2:c.1757C>G	XP_011514175.1:p.Pro586Arg
XM_011515875.2:c.1733C>G	XP_011514177.1:p.Pro578Arg
XM_011515876.2:c.1814C>G	XP_011514178.1:p.Pro605Arg
XM_011515877.2:c.1703C>G	XP_011514179.1:p.Pro568Arg
XM_017011813.1:c.1727C>G	XP_016867302.1:p.Pro576Arg
XM_017011814.2:c.1715C>G	XP_016867303.1:p.Pro572Arg
NM_000501.4:c.1799C>G MANE Select	NP_000492.2:p.Pro600Arg
NM_001081752.3:c.1712C>G	NP_001075221.1:p.Pro571Arg
NM_001081753.3:c.1757C>G	NP_001075222.1:p.Pro586Arg
NM_001081754.3:c.1814C>G	NP_001075223.1:p.Pro605Arg
NM_001081755.3:c.1742C>G	NP_001075224.1:p.Pro581Arg
NM_001278912.2:c.1799C>G	NP_001265841.1:p.Pro600Arg
NM_001278913.2:c.1556C>G	NP_001265842.1:p.Pro519Arg
NM_001278914.2:c.1727C>G	NP_001265843.1:p.Pro576Arg
NM_001278915.2:c.1817C>G	NP_001265844.1:p.Pro606Arg
NM_001278916.2:c.1655C>G	NP_001265845.1:p.Pro552Arg
NM_001278917.2:c.1769C>G	NP_001265846.1:p.Pro590Arg
NM_001278918.2:c.1532C>G	NP_001265847.1:p.Pro511Arg
NM_001278939.2:c.1985C>G	NP_001265868.1:p.Pro662Arg