Canonical Allele Identifier: CA2628950

Gene: KY EPHB1 CEP63

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.134603900A>G , CM000665.2:g.134603900A>G	GRCh38
NC_000003.11:g.134322742A>G , CM000665.1:g.134322742A>G	GRCh37
NC_000003.10:g.135805432A>G	NCBI36
NG_054713.1:g.57154T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_178554.6:c.1665T>C (KY) MANE Select	NP_848649.3:p.Leu555=
ENST00000423778.7:c.1665T>C (KY) MANE Select	ENSP00000397598.2:p.Leu555=
NM_001350859.1:c.1617T>C (KY)	NP_001337788.1:p.Leu539=
NM_001350859.2:c.1617T>C (KY)	NP_001337788.1:p.Leu539=
NM_001366276.1:c.1602T>C (KY)	NP_001353205.1:p.Leu534=
NM_178554.4:c.1665T>C (KY)	NP_848649.3:p.Leu555=
NM_178554.5:c.1665T>C (KY)	NP_848649.3:p.Leu555=
ENST00000423778.6:c.1665T>C (KY)	ENSP00000397598.2:p.Leu555=
ENST00000467708.2:n.106+5916A>G (EPHB1)
ENST00000472904.5:n.161+5916A>G (EPHB1)
ENST00000503669.1:c.*547T>C (KY)	ENSP00000426777.1:n.*547T>C
ENST00000508956.5:c.1602T>C (KY)	ENSP00000421297.1:p.Leu534=
XM_005247417.2:c.1788T>C (KY)	XP_005247474.1:p.Leu596=
XM_005247418.2:c.1779T>C (KY)	XP_005247475.1:p.Leu593=
XM_006713612.2:c.1725T>C (KY)	XP_006713675.1:p.Leu575=
XM_006713612.3:c.1725T>C (KY)	XP_006713675.1:p.Leu575=
XM_011512747.1:c.1365T>C (KY)	XP_011511049.1:p.Leu455=
XM_017006287.1:c.1857T>C (KY)	XP_016861776.1:p.Leu619=
XM_017006288.1:c.1803T>C (KY)	XP_016861777.1:p.Leu601=
XM_017006290.1:c.1740T>C (KY)	XP_016861779.1:p.Leu580=
XM_024453389.1:c.-408+5916A>G (EPHB1)	XP_024309157.1:n.-408+5916A>G
XM_024453390.1:c.-408+2700A>G (EPHB1)	XP_024309158.1:n.-408+2700A>G
XR_002959586.1:n.1672+5916A>G (CEP63)
XR_002959589.1:n.1567+5916A>G (CEP63)
XR_241572.2:n.284+5916A>G
XR_427411.2:n.284+5916A>G
XR_924521.1:n.284+5916A>G