Canonical Allele Identifier: CA1621466458

Gene: CPNE5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36743273A= , CM000668.2:g.36743273A=	GRCh38
NC_000006.11:g.36711050A= , CM000668.1:g.36711050A=	GRCh37
NC_000006.10:g.36819028A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020939.2:c.1563+416T= MANE Select	NP_065990.1:n.1563+416T=
ENST00000244751.7:c.1563+416T= MANE Select	ENSP00000244751.2:n.1563+416T=
NM_001314018.1:c.687+416T=	NP_001300947.1:n.687+416T=
NM_001314018.2:c.687+416T=	NP_001300947.1:n.687+416T=
NM_001314019.1:c.513+416T=	NP_001300948.1:n.513+416T=
NM_001314019.2:c.513+416T=	NP_001300948.1:n.513+416T=
NM_001314020.1:c.513+416T=	NP_001300949.1:n.513+416T=
NM_001314020.2:c.513+416T=	NP_001300949.1:n.513+416T=
NM_001376888.1:c.513+416T=	NP_001363817.1:n.513+416T=
NM_001376889.1:c.1614+416T=	NP_001363818.1:n.1614+416T=
NM_001376890.1:c.687+416T=	NP_001363819.1:n.687+416T=
NM_001376891.1:c.687+416T=	NP_001363820.1:n.687+416T=
NM_001376892.1:c.*17T=	NP_001363821.1:n.*17T=
NM_001376893.1:c.*17T=	NP_001363822.1:n.*17T=
NM_001376894.1:c.833+416T=	NP_001363823.1:n.833+416T=
NM_001376895.1:c.*17T=	NP_001363824.1:n.*17T=
NM_020939.1:c.1563+416T=	NP_065990.1:n.1563+416T=
ENST00000244751.6:c.1563+416T=	ENSP00000244751.2:n.1563+416T=
ENST00000393189.2:c.687+416T=	ENSP00000376885.2:n.687+416T=
ENST00000459703.5:n.846+416T=
ENST00000493411.2:n.743+416T=
ENST00000633136.2:c.1614+416T=	ENSP00000487872.2:n.1614+416T=
XM_005249247.1:c.1614+416T=	XP_005249304.1:n.1614+416T=
XM_005249247.2:c.1614+416T=	XP_005249304.1:n.1614+416T=
XM_005249249.2:c.1615-36T=	XP_005249306.1:n.1615-36T=
XM_011514768.1:c.*17T=	XP_011513070.1:n.*17T=
XM_011514769.1:c.*17T=	XP_011513071.1:n.*17T=
XM_011514770.1:c.*17T=	XP_011513072.1:n.*17T=
XM_011514771.1:c.*17T=	XP_011513073.1:n.*17T=
XM_011514771.2:c.*17T=	XP_011513073.1:n.*17T=
XM_011514773.1:c.*17T=	XP_011513075.1:n.*17T=
XM_011514773.2:c.*17T=	XP_011513075.1:n.*17T=
XM_011514775.1:c.*17T=	XP_011513077.1:n.*17T=
XM_011514775.2:c.*17T=	XP_011513077.1:n.*17T=
XM_011514776.1:c.*17T=	XP_011513078.1:n.*17T=
XM_011514777.1:c.*17T=	XP_011513079.1:n.*17T=
XM_011514778.1:c.*17T=	XP_011513080.1:n.*17T=
XM_017011139.2:c.*17T=	XP_016866628.1:n.*17T=
XM_024446500.1:c.513+416T=	XP_024302268.1:n.513+416T=
XR_002956290.1:n.1753+416T=
XR_002956291.1:n.1619+416T=