Canonical Allele Identifier: CA354630182
Community Standard Title: NM_178554.6(KY):c.1078A>C (p.Met360Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.134608661T>G , CM000665.2:g.134608661T>G GRCh38
NC_000003.11:g.134327503T>G , CM000665.1:g.134327503T>G GRCh37
NC_000003.10:g.135810193T>G NCBI36
NG_054713.1:g.52393A>C

Transcript Alleles

HGVS Amino-acid Change
NM_178554.6:c.1078A>C (KY) MANE Select NP_848649.3:p.Met360Leu
ENST00000423778.7:c.1078A>C (KY) MANE Select ENSP00000397598.2:p.Met360Leu
NM_001350859.1:c.1030A>C (KY) NP_001337788.1:p.Met344Leu
NM_001350859.2:c.1030A>C (KY) NP_001337788.1:p.Met344Leu
NM_001350860.1:c.952A>C (KY) NP_001337789.1:p.Met318Leu
NM_001350860.2:c.952A>C (KY) NP_001337789.1:p.Met318Leu
NM_001366276.1:c.1015A>C (KY) NP_001353205.1:p.Met339Leu
NM_001366277.1:c.1078A>C (KY) NP_001353206.1:p.Met360Leu
NM_001366277.2:c.1078A>C (KY) NP_001353206.1:p.Met360Leu
NM_178554.4:c.1078A>C (KY) NP_848649.3:p.Met360Leu
NM_178554.5:c.1078A>C (KY) NP_848649.3:p.Met360Leu
ENST00000423778.6:c.1078A>C (KY) ENSP00000397598.2:p.Met360Leu
ENST00000467708.2:n.107-6523T>G (EPHB1)
ENST00000472904.5:n.162-6523T>G (EPHB1)
ENST00000503669.1:c.899+1534A>C (KY) ENSP00000426777.1:n.899+1534A>C
ENST00000506319.5:n.2383A>C (KY)
ENST00000508956.5:c.1015A>C (KY) ENSP00000421297.1:p.Met339Leu
XM_005247417.2:c.1201A>C (KY) XP_005247474.1:p.Met401Leu
XM_005247418.2:c.1192A>C (KY) XP_005247475.1:p.Met398Leu
XM_006713612.2:c.1138A>C (KY) XP_006713675.1:p.Met380Leu
XM_006713612.3:c.1138A>C (KY) XP_006713675.1:p.Met380Leu
XM_011512747.1:c.778A>C (KY) XP_011511049.1:p.Met260Leu
XM_017006287.1:c.1270A>C (KY) XP_016861776.1:p.Met424Leu
XM_017006288.1:c.1216A>C (KY) XP_016861777.1:p.Met406Leu
XM_017006290.1:c.1153A>C (KY) XP_016861779.1:p.Met385Leu
XM_024453389.1:c.-407-6523T>G (EPHB1) XP_024309157.1:n.-407-6523T>G
XM_024453390.1:c.-407-6523T>G (EPHB1) XP_024309158.1:n.-407-6523T>G
XM_024453508.1:c.1138A>C (KY) XP_024309276.1:p.Met380Leu
XR_002959586.1:n.1673-6523T>G (CEP63)
XR_002959589.1:n.1568-6523T>G (CEP63)
XR_241572.2:n.285-6523T>G
XR_427411.2:n.285-6523T>G
XR_924521.1:n.285-6523T>G