Canonical Allele Identifier: CA83764349

Gene: KY EPHB1 CEP63

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.134621125A>C , CM000665.2:g.134621125A>C	GRCh38
NC_000003.11:g.134339967A>C , CM000665.1:g.134339967A>C	GRCh37
NC_000003.10:g.135822657A>C	NCBI36
NG_054713.1:g.39929T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_178554.6:c.484-268T>G (KY) MANE Select	NP_848649.3:n.484-268T>G
ENST00000423778.7:c.484-268T>G (KY) MANE Select	ENSP00000397598.2:n.484-268T>G
NM_001350859.1:c.436-268T>G (KY)	NP_001337788.1:n.436-268T>G
NM_001350859.2:c.436-268T>G (KY)	NP_001337788.1:n.436-268T>G
NM_001350860.1:c.358-268T>G (KY)	NP_001337789.1:n.358-268T>G
NM_001350860.2:c.358-268T>G (KY)	NP_001337789.1:n.358-268T>G
NM_001366276.1:c.421-268T>G (KY)	NP_001353205.1:n.421-268T>G
NM_001366277.1:c.484-268T>G (KY)	NP_001353206.1:n.484-268T>G
NM_001366277.2:c.484-268T>G (KY)	NP_001353206.1:n.484-268T>G
NM_178554.4:c.484-268T>G (KY)	NP_848649.3:n.484-268T>G
NM_178554.5:c.484-268T>G (KY)	NP_848649.3:n.484-268T>G
ENST00000423778.6:c.484-268T>G (KY)	ENSP00000397598.2:n.484-268T>G
ENST00000460895.5:c.-153+5687A>C (EPHB1)	ENSP00000417435.1:n.-153+5687A>C
ENST00000467708.2:n.361+5687A>C (EPHB1)
ENST00000472904.5:n.416+5687A>C (EPHB1)
ENST00000503669.1:c.484-268T>G (KY)	ENSP00000426777.1:n.484-268T>G
ENST00000506319.5:n.1564-268T>G (KY)
ENST00000508041.1:n.262-268T>G (KY)
ENST00000508956.5:c.421-268T>G (KY)	ENSP00000421297.1:n.421-268T>G
XM_005247417.2:c.607-268T>G (KY)	XP_005247474.1:n.607-268T>G
XM_005247418.2:c.598-268T>G (KY)	XP_005247475.1:n.598-268T>G
XM_006713612.2:c.544-268T>G (KY)	XP_006713675.1:n.544-268T>G
XM_006713612.3:c.544-268T>G (KY)	XP_006713675.1:n.544-268T>G
XM_011512747.1:c.184-268T>G (KY)	XP_011511049.1:n.184-268T>G
XM_017006287.1:c.676-268T>G (KY)	XP_016861776.1:n.676-268T>G
XM_017006288.1:c.622-268T>G (KY)	XP_016861777.1:n.622-268T>G
XM_017006290.1:c.559-268T>G (KY)	XP_016861779.1:n.559-268T>G
XM_024453389.1:c.-153+5687A>C (EPHB1)	XP_024309157.1:n.-153+5687A>C
XM_024453390.1:c.-153+5687A>C (EPHB1)	XP_024309158.1:n.-153+5687A>C
XM_024453508.1:c.544-268T>G (KY)	XP_024309276.1:n.544-268T>G
XR_002959586.1:n.1927+5687A>C (CEP63)
XR_241572.2:n.539+5687A>C
XR_427411.2:n.539+5687A>C
XR_924521.1:n.539+5687A>C