Canonical Allele Identifier: CA367889272

Gene: ELN

Linked Data

• ClinVar Variation Id: 2490329
• ClinVar RCV Id: RCV003215275
• MyVariant Identifiers: chr7:g.73477488G>C (hg19) ; chr7:g.74063158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063158G>C , CM000669.2:g.74063158G>C	GRCh38
NC_000007.13:g.73477488G>C , CM000669.1:g.73477488G>C	GRCh37
NC_000007.12:g.73115424G>C	NCBI36
NG_009261.1:g.40062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1978G>C	ENSP00000510104.1:p.Ala660Pro
ENST00000252034.12:c.1792G>C MANE Select	ENSP00000252034.7:p.Ala598Pro
ENST00000252034.11:c.1792G>C	ENSP00000252034.7:p.Ala598Pro
ENST00000320399.10:c.1891G>C	ENSP00000313565.6:p.Ala631Pro
ENST00000320492.11:c.1549G>C	ENSP00000315607.7:p.Ala517Pro
ENST00000357036.9:c.1807G>C	ENSP00000349540.5:p.Ala603Pro
ENST00000358929.8:c.1978G>C	ENSP00000351807.5:p.Ala660Pro
ENST00000380553.8:c.1384G>C	ENSP00000369926.4:p.Ala462Pro
ENST00000380562.8:c.1810G>C	ENSP00000369936.4:p.Ala604Pro
ENST00000380575.8:c.1705G>C	ENSP00000369949.4:p.Ala569Pro
ENST00000380576.9:c.1735G>C	ENSP00000369950.5:p.Ala579Pro
ENST00000380584.8:c.1648G>C	ENSP00000369958.4:p.Ala550Pro
ENST00000414324.5:c.1720G>C	ENSP00000392575.1:p.Ala574Pro
ENST00000429192.5:c.1750G>C	ENSP00000391129.1:p.Ala584Pro
ENST00000445912.5:c.1792G>C	ENSP00000389857.1:p.Ala598Pro
ENST00000458204.5:c.1762G>C	ENSP00000403162.1:p.Ala588Pro
ENST00000621115.4:c.1525G>C	ENSP00000480955.1:p.Ala509Pro
NM_000501.3:c.1792G>C	NP_000492.2:p.Ala598Pro
NM_001081752.2:c.1705G>C	NP_001075221.1:p.Ala569Pro
NM_001081753.2:c.1750G>C	NP_001075222.1:p.Ala584Pro
NM_001081754.2:c.1807G>C	NP_001075223.1:p.Ala603Pro
NM_001081755.2:c.1735G>C	NP_001075224.1:p.Ala579Pro
NM_001278912.1:c.1792G>C	NP_001265841.1:p.Ala598Pro
NM_001278913.1:c.1549G>C	NP_001265842.1:p.Ala517Pro
NM_001278914.1:c.1720G>C	NP_001265843.1:p.Ala574Pro
NM_001278915.1:c.1810G>C	NP_001265844.1:p.Ala604Pro
NM_001278916.1:c.1648G>C	NP_001265845.1:p.Ala550Pro
NM_001278917.1:c.1762G>C	NP_001265846.1:p.Ala588Pro
NM_001278918.1:c.1525G>C	NP_001265847.1:p.Ala509Pro
NM_001278939.1:c.1978G>C	NP_001265868.1:p.Ala660Pro
XM_005250187.1:c.1756G>C	XP_005250244.1:p.Ala586Pro
XM_005250188.1:c.1750G>C	XP_005250245.1:p.Ala584Pro
XM_011515868.1:c.1807G>C	XP_011514170.1:p.Ala603Pro
XM_011515869.1:c.1777G>C	XP_011514171.1:p.Ala593Pro
XM_011515870.1:c.1771G>C	XP_011514172.1:p.Ala591Pro
XM_011515871.1:c.1765G>C	XP_011514173.1:p.Ala589Pro
XM_011515872.1:c.1753G>C	XP_011514174.1:p.Ala585Pro
XM_011515873.1:c.1750G>C	XP_011514175.1:p.Ala584Pro
XM_011515874.1:c.1741G>C	XP_011514176.1:p.Ala581Pro
XM_011515875.1:c.1726G>C	XP_011514177.1:p.Ala576Pro
XM_011515876.1:c.1807G>C	XP_011514178.1:p.Ala603Pro
XM_011515877.1:c.1696G>C	XP_011514179.1:p.Ala566Pro
XM_005250187.2:c.1756G>C	XP_005250244.1:p.Ala586Pro
XM_005250188.2:c.1750G>C	XP_005250245.1:p.Ala584Pro
XM_011515868.2:c.1807G>C	XP_011514170.1:p.Ala603Pro
XM_011515871.2:c.1765G>C	XP_011514173.1:p.Ala589Pro
XM_011515872.2:c.1753G>C	XP_011514174.1:p.Ala585Pro
XM_011515873.2:c.1750G>C	XP_011514175.1:p.Ala584Pro
XM_011515875.2:c.1726G>C	XP_011514177.1:p.Ala576Pro
XM_011515876.2:c.1807G>C	XP_011514178.1:p.Ala603Pro
XM_011515877.2:c.1696G>C	XP_011514179.1:p.Ala566Pro
XM_017011813.1:c.1720G>C	XP_016867302.1:p.Ala574Pro
XM_017011814.2:c.1708G>C	XP_016867303.1:p.Ala570Pro
NM_000501.4:c.1792G>C MANE Select	NP_000492.2:p.Ala598Pro
NM_001081752.3:c.1705G>C	NP_001075221.1:p.Ala569Pro
NM_001081753.3:c.1750G>C	NP_001075222.1:p.Ala584Pro
NM_001081754.3:c.1807G>C	NP_001075223.1:p.Ala603Pro
NM_001081755.3:c.1735G>C	NP_001075224.1:p.Ala579Pro
NM_001278912.2:c.1792G>C	NP_001265841.1:p.Ala598Pro
NM_001278913.2:c.1549G>C	NP_001265842.1:p.Ala517Pro
NM_001278914.2:c.1720G>C	NP_001265843.1:p.Ala574Pro
NM_001278915.2:c.1810G>C	NP_001265844.1:p.Ala604Pro
NM_001278916.2:c.1648G>C	NP_001265845.1:p.Ala550Pro
NM_001278917.2:c.1762G>C	NP_001265846.1:p.Ala588Pro
NM_001278918.2:c.1525G>C	NP_001265847.1:p.Ala509Pro
NM_001278939.2:c.1978G>C	NP_001265868.1:p.Ala660Pro