Canonical Allele Identifier: CA2628976
Community Standard Title: NM_178554.6(KY):c.1530C>T (p.Arg510=)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.134604035G>A , CM000665.2:g.134604035G>A GRCh38
NC_000003.11:g.134322877G>A , CM000665.1:g.134322877G>A GRCh37
NC_000003.10:g.135805567G>A NCBI36
NG_054713.1:g.57019C>T

Transcript Alleles

HGVS Amino-acid Change
NM_178554.6:c.1530C>T (KY) MANE Select NP_848649.3:p.Arg510=
ENST00000423778.7:c.1530C>T (KY) MANE Select ENSP00000397598.2:p.Arg510=
NM_001350859.1:c.1482C>T (KY) NP_001337788.1:p.Arg494=
NM_001350859.2:c.1482C>T (KY) NP_001337788.1:p.Arg494=
NM_001366276.1:c.1467C>T (KY) NP_001353205.1:p.Arg489=
NM_178554.4:c.1530C>T (KY) NP_848649.3:p.Arg510=
NM_178554.5:c.1530C>T (KY) NP_848649.3:p.Arg510=
ENST00000423778.6:c.1530C>T (KY) ENSP00000397598.2:p.Arg510=
ENST00000467708.2:n.106+6051G>A (EPHB1)
ENST00000472904.5:n.161+6051G>A (EPHB1)
ENST00000503669.1:c.*412C>T (KY) ENSP00000426777.1:n.*412C>T
ENST00000508956.5:c.1467C>T (KY) ENSP00000421297.1:p.Arg489=
XM_005247417.2:c.1653C>T (KY) XP_005247474.1:p.Arg551=
XM_005247418.2:c.1644C>T (KY) XP_005247475.1:p.Arg548=
XM_006713612.2:c.1590C>T (KY) XP_006713675.1:p.Arg530=
XM_006713612.3:c.1590C>T (KY) XP_006713675.1:p.Arg530=
XM_011512747.1:c.1230C>T (KY) XP_011511049.1:p.Arg410=
XM_017006287.1:c.1722C>T (KY) XP_016861776.1:p.Arg574=
XM_017006288.1:c.1668C>T (KY) XP_016861777.1:p.Arg556=
XM_017006290.1:c.1605C>T (KY) XP_016861779.1:p.Arg535=
XM_024453389.1:c.-408+6051G>A (EPHB1) XP_024309157.1:n.-408+6051G>A
XM_024453390.1:c.-408+2835G>A (EPHB1) XP_024309158.1:n.-408+2835G>A
XR_002959586.1:n.1672+6051G>A (CEP63)
XR_002959589.1:n.1567+6051G>A (CEP63)
XR_241572.2:n.284+6051G>A
XR_427411.2:n.284+6051G>A
XR_924521.1:n.284+6051G>A