Canonical Allele Identifier: CA367870326

Gene: ELN

Linked Data

• ClinVar Variation Id: 504955
• ClinVar RCV Id: RCV000614385
• dbSNP Id: rs1554672587
• MyVariant Identifiers: chr7:g.73461088A>T (hg19) ; chr7:g.74046758A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74046758A>T , CM000669.2:g.74046758A>T	GRCh38
NC_000007.13:g.73461088A>T , CM000669.1:g.73461088A>T	GRCh37
NC_000007.12:g.73099024A>T	NCBI36
NG_009261.1:g.23662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.634A>T	ENSP00000510104.1:p.Lys212Ter
ENST00000252034.12:c.634A>T MANE Select	ENSP00000252034.7:p.Lys212Ter
ENST00000252034.11:c.634A>T	ENSP00000252034.7:p.Lys212Ter
ENST00000320399.10:c.634A>T	ENSP00000313565.6:p.Lys212Ter
ENST00000320492.11:c.568A>T	ENSP00000315607.7:p.Lys190Ter
ENST00000357036.9:c.649A>T	ENSP00000349540.5:p.Lys217Ter
ENST00000358929.8:c.634A>T	ENSP00000351807.5:p.Lys212Ter
ENST00000380553.8:c.325A>T	ENSP00000369926.4:p.Lys109Ter
ENST00000380562.8:c.634A>T	ENSP00000369936.4:p.Lys212Ter
ENST00000380575.8:c.604A>T	ENSP00000369949.4:p.Lys202Ter
ENST00000380576.9:c.634A>T	ENSP00000369950.5:p.Lys212Ter
ENST00000380584.8:c.634A>T	ENSP00000369958.4:p.Lys212Ter
ENST00000414324.5:c.619A>T	ENSP00000392575.1:p.Lys207Ter
ENST00000417091.5:c.532A>T	ENSP00000411092.1:p.Lys178Ter
ENST00000428787.5:c.388A>T	ENSP00000399499.1:p.Lys130Ter
ENST00000429192.5:c.649A>T	ENSP00000391129.1:p.Lys217Ter
ENST00000438880.5:c.259A>T	ENSP00000389206.1:p.Lys87Ter
ENST00000438906.5:c.568A>T	ENSP00000406949.1:p.Lys190Ter
ENST00000442310.5:c.520A>T	ENSP00000403961.1:p.Lys174Ter
ENST00000445912.5:c.634A>T	ENSP00000389857.1:p.Lys212Ter
ENST00000458204.5:c.604A>T	ENSP00000403162.1:p.Lys202Ter
ENST00000477397.1:n.518A>T
ENST00000493839.1:n.100A>T
ENST00000621115.4:c.502A>T	ENSP00000480955.1:p.Lys168Ter
NM_000501.3:c.634A>T	NP_000492.2:p.Lys212Ter
NM_001081752.2:c.604A>T	NP_001075221.1:p.Lys202Ter
NM_001081753.2:c.649A>T	NP_001075222.1:p.Lys217Ter
NM_001081754.2:c.649A>T	NP_001075223.1:p.Lys217Ter
NM_001081755.2:c.634A>T	NP_001075224.1:p.Lys212Ter
NM_001278912.1:c.634A>T	NP_001265841.1:p.Lys212Ter
NM_001278913.1:c.568A>T	NP_001265842.1:p.Lys190Ter
NM_001278914.1:c.619A>T	NP_001265843.1:p.Lys207Ter
NM_001278915.1:c.634A>T	NP_001265844.1:p.Lys212Ter
NM_001278916.1:c.634A>T	NP_001265845.1:p.Lys212Ter
NM_001278917.1:c.604A>T	NP_001265846.1:p.Lys202Ter
NM_001278918.1:c.502A>T	NP_001265847.1:p.Lys168Ter
NM_001278939.1:c.634A>T	NP_001265868.1:p.Lys212Ter
XM_005250187.1:c.598A>T	XP_005250244.1:p.Lys200Ter
XM_005250188.1:c.634A>T	XP_005250245.1:p.Lys212Ter
XM_011515868.1:c.649A>T	XP_011514170.1:p.Lys217Ter
XM_011515869.1:c.619A>T	XP_011514171.1:p.Lys207Ter
XM_011515870.1:c.613A>T	XP_011514172.1:p.Lys205Ter
XM_011515871.1:c.649A>T	XP_011514173.1:p.Lys217Ter
XM_011515872.1:c.649A>T	XP_011514174.1:p.Lys217Ter
XM_011515873.1:c.649A>T	XP_011514175.1:p.Lys217Ter
XM_011515874.1:c.583A>T	XP_011514176.1:p.Lys195Ter
XM_011515875.1:c.568A>T	XP_011514177.1:p.Lys190Ter
XM_011515876.1:c.649A>T	XP_011514178.1:p.Lys217Ter
XM_011515877.1:c.649A>T	XP_011514179.1:p.Lys217Ter
XM_005250187.2:c.598A>T	XP_005250244.1:p.Lys200Ter
XM_005250188.2:c.634A>T	XP_005250245.1:p.Lys212Ter
XM_011515868.2:c.649A>T	XP_011514170.1:p.Lys217Ter
XM_011515871.2:c.649A>T	XP_011514173.1:p.Lys217Ter
XM_011515872.2:c.649A>T	XP_011514174.1:p.Lys217Ter
XM_011515873.2:c.649A>T	XP_011514175.1:p.Lys217Ter
XM_011515875.2:c.568A>T	XP_011514177.1:p.Lys190Ter
XM_011515876.2:c.649A>T	XP_011514178.1:p.Lys217Ter
XM_011515877.2:c.649A>T	XP_011514179.1:p.Lys217Ter
XM_017011813.1:c.604A>T	XP_016867302.1:p.Lys202Ter
XM_017011814.2:c.649A>T	XP_016867303.1:p.Lys217Ter
NM_000501.4:c.634A>T MANE Select	NP_000492.2:p.Lys212Ter
NM_001081752.3:c.604A>T	NP_001075221.1:p.Lys202Ter
NM_001081753.3:c.649A>T	NP_001075222.1:p.Lys217Ter
NM_001081754.3:c.649A>T	NP_001075223.1:p.Lys217Ter
NM_001081755.3:c.634A>T	NP_001075224.1:p.Lys212Ter
NM_001278912.2:c.634A>T	NP_001265841.1:p.Lys212Ter
NM_001278913.2:c.568A>T	NP_001265842.1:p.Lys190Ter
NM_001278914.2:c.619A>T	NP_001265843.1:p.Lys207Ter
NM_001278915.2:c.634A>T	NP_001265844.1:p.Lys212Ter
NM_001278916.2:c.634A>T	NP_001265845.1:p.Lys212Ter
NM_001278917.2:c.604A>T	NP_001265846.1:p.Lys202Ter
NM_001278918.2:c.502A>T	NP_001265847.1:p.Lys168Ter
NM_001278939.2:c.634A>T	NP_001265868.1:p.Lys212Ter