Canonical Allele Identifier: CA354624033

Gene: KY EPHB1 CEP63

Linked Data

• dbSNP Id: rs371963154
• gnomAD v2: 3-134369766-C-A
• gnomAD v4: 3-134650924-C-A
• MyVariant Identifiers: chr3:g.134369766C>A (hg19) ; chr3:g.134650924C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.134650924C>A , CM000665.2:g.134650924C>A	GRCh38
NC_000003.11:g.134369766C>A , CM000665.1:g.134369766C>A	GRCh37
NC_000003.10:g.135852456C>A	NCBI36
NG_054713.1:g.10130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423778.7:c.37G>T (KY) MANE Select	ENSP00000397598.2:p.Asp13Tyr
ENST00000423778.6:c.37G>T (KY)	ENSP00000397598.2:p.Asp13Tyr
ENST00000460895.5:c.-153+35486C>A (EPHB1)	ENSP00000417435.1:n.-153+35486C>A
ENST00000467708.2:n.361+35486C>A (EPHB1)
ENST00000503669.1:c.37G>T (KY)	ENSP00000426777.1:p.Asp13Tyr
ENST00000506319.5:n.713G>T (KY)
ENST00000508956.5:c.37G>T (KY)	ENSP00000421297.1:p.Asp13Tyr
NM_178554.4:c.37G>T (KY)	NP_848649.3:p.Asp13Tyr
XM_005247417.2:c.214G>T (KY)	XP_005247474.1:p.Asp72Tyr
XM_005247418.2:c.214G>T (KY)	XP_005247475.1:p.Asp72Tyr
XM_006713612.2:c.214G>T (KY)	XP_006713675.1:p.Asp72Tyr
XR_241572.2:n.540-7760C>A
XR_924521.1:n.540-22030C>A
NM_001350859.1:c.37G>T (KY)	NP_001337788.1:p.Asp13Tyr
NM_001350860.1:c.37G>T (KY)	NP_001337789.1:p.Asp13Tyr
NM_001366276.1:c.37G>T (KY)	NP_001353205.1:p.Asp13Tyr
NM_001366277.1:c.37G>T (KY)	NP_001353206.1:p.Asp13Tyr
NM_178554.5:c.37G>T (KY)	NP_848649.3:p.Asp13Tyr
XM_006713612.3:c.214G>T (KY)	XP_006713675.1:p.Asp72Tyr
XM_017006287.1:c.214G>T (KY)	XP_016861776.1:p.Asp72Tyr
XM_017006288.1:c.214G>T (KY)	XP_016861777.1:p.Asp72Tyr
XM_017006290.1:c.214G>T (KY)	XP_016861779.1:p.Asp72Tyr
XM_024453389.1:c.-153+35486C>A (EPHB1)	XP_024309157.1:n.-153+35486C>A
XM_024453390.1:c.-153+35486C>A (EPHB1)	XP_024309158.1:n.-153+35486C>A
XM_024453508.1:c.214G>T (KY)	XP_024309276.1:p.Asp72Tyr
XR_002959586.1:n.1927+35486C>A (CEP63)
NM_178554.6:c.37G>T (KY) MANE Select	NP_848649.3:p.Asp13Tyr
NM_001350859.2:c.37G>T (KY)	NP_001337788.1:p.Asp13Tyr
NM_001350860.2:c.37G>T (KY)	NP_001337789.1:p.Asp13Tyr
NM_001366277.2:c.37G>T (KY)	NP_001353206.1:p.Asp13Tyr