Canonical Allele Identifier: CA455886839

Gene: ELN

Linked Data

• gnomAD v4: 7-74063166-T-G
• MyVariant Identifiers: chr7:g.73477496T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063166T>G , CM000669.2:g.74063166T>G	GRCh38
NC_000007.13:g.73477496T>G , CM000669.1:g.73477496T>G	GRCh37
NC_000007.12:g.73115432T>G	NCBI36
NG_009261.1:g.40070T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1986T>G	ENSP00000510104.1:p.Pro662=
ENST00000252034.12:c.1800T>G MANE Select	ENSP00000252034.7:p.Pro600=
ENST00000252034.11:c.1800T>G	ENSP00000252034.7:p.Pro600=
ENST00000320399.10:c.1899T>G	ENSP00000313565.6:p.Pro633=
ENST00000320492.11:c.1557T>G	ENSP00000315607.7:p.Pro519=
ENST00000357036.9:c.1815T>G	ENSP00000349540.5:p.Pro605=
ENST00000358929.8:c.1986T>G	ENSP00000351807.5:p.Pro662=
ENST00000380553.8:c.1392T>G	ENSP00000369926.4:p.Pro464=
ENST00000380562.8:c.1818T>G	ENSP00000369936.4:p.Pro606=
ENST00000380575.8:c.1713T>G	ENSP00000369949.4:p.Pro571=
ENST00000380576.9:c.1743T>G	ENSP00000369950.5:p.Pro581=
ENST00000380584.8:c.1656T>G	ENSP00000369958.4:p.Pro552=
ENST00000414324.5:c.1728T>G	ENSP00000392575.1:p.Pro576=
ENST00000429192.5:c.1758T>G	ENSP00000391129.1:p.Pro586=
ENST00000445912.5:c.1800T>G	ENSP00000389857.1:p.Pro600=
ENST00000458204.5:c.1770T>G	ENSP00000403162.1:p.Pro590=
ENST00000621115.4:c.1533T>G	ENSP00000480955.1:p.Pro511=
NM_000501.3:c.1800T>G	NP_000492.2:p.Pro600=
NM_001081752.2:c.1713T>G	NP_001075221.1:p.Pro571=
NM_001081753.2:c.1758T>G	NP_001075222.1:p.Pro586=
NM_001081754.2:c.1815T>G	NP_001075223.1:p.Pro605=
NM_001081755.2:c.1743T>G	NP_001075224.1:p.Pro581=
NM_001278912.1:c.1800T>G	NP_001265841.1:p.Pro600=
NM_001278913.1:c.1557T>G	NP_001265842.1:p.Pro519=
NM_001278914.1:c.1728T>G	NP_001265843.1:p.Pro576=
NM_001278915.1:c.1818T>G	NP_001265844.1:p.Pro606=
NM_001278916.1:c.1656T>G	NP_001265845.1:p.Pro552=
NM_001278917.1:c.1770T>G	NP_001265846.1:p.Pro590=
NM_001278918.1:c.1533T>G	NP_001265847.1:p.Pro511=
NM_001278939.1:c.1986T>G	NP_001265868.1:p.Pro662=
XM_005250187.1:c.1764T>G	XP_005250244.1:p.Pro588=
XM_005250188.1:c.1758T>G	XP_005250245.1:p.Pro586=
XM_011515868.1:c.1815T>G	XP_011514170.1:p.Pro605=
XM_011515869.1:c.1785T>G	XP_011514171.1:p.Pro595=
XM_011515870.1:c.1779T>G	XP_011514172.1:p.Pro593=
XM_011515871.1:c.1773T>G	XP_011514173.1:p.Pro591=
XM_011515872.1:c.1761T>G	XP_011514174.1:p.Pro587=
XM_011515873.1:c.1758T>G	XP_011514175.1:p.Pro586=
XM_011515874.1:c.1749T>G	XP_011514176.1:p.Pro583=
XM_011515875.1:c.1734T>G	XP_011514177.1:p.Pro578=
XM_011515876.1:c.1815T>G	XP_011514178.1:p.Pro605=
XM_011515877.1:c.1704T>G	XP_011514179.1:p.Pro568=
XM_005250187.2:c.1764T>G	XP_005250244.1:p.Pro588=
XM_005250188.2:c.1758T>G	XP_005250245.1:p.Pro586=
XM_011515868.2:c.1815T>G	XP_011514170.1:p.Pro605=
XM_011515871.2:c.1773T>G	XP_011514173.1:p.Pro591=
XM_011515872.2:c.1761T>G	XP_011514174.1:p.Pro587=
XM_011515873.2:c.1758T>G	XP_011514175.1:p.Pro586=
XM_011515875.2:c.1734T>G	XP_011514177.1:p.Pro578=
XM_011515876.2:c.1815T>G	XP_011514178.1:p.Pro605=
XM_011515877.2:c.1704T>G	XP_011514179.1:p.Pro568=
XM_017011813.1:c.1728T>G	XP_016867302.1:p.Pro576=
XM_017011814.2:c.1716T>G	XP_016867303.1:p.Pro572=
NM_000501.4:c.1800T>G MANE Select	NP_000492.2:p.Pro600=
NM_001081752.3:c.1713T>G	NP_001075221.1:p.Pro571=
NM_001081753.3:c.1758T>G	NP_001075222.1:p.Pro586=
NM_001081754.3:c.1815T>G	NP_001075223.1:p.Pro605=
NM_001081755.3:c.1743T>G	NP_001075224.1:p.Pro581=
NM_001278912.2:c.1800T>G	NP_001265841.1:p.Pro600=
NM_001278913.2:c.1557T>G	NP_001265842.1:p.Pro519=
NM_001278914.2:c.1728T>G	NP_001265843.1:p.Pro576=
NM_001278915.2:c.1818T>G	NP_001265844.1:p.Pro606=
NM_001278916.2:c.1656T>G	NP_001265845.1:p.Pro552=
NM_001278917.2:c.1770T>G	NP_001265846.1:p.Pro590=
NM_001278918.2:c.1533T>G	NP_001265847.1:p.Pro511=
NM_001278939.2:c.1986T>G	NP_001265868.1:p.Pro662=