Canonical Allele Identifier: CA2678503817

Gene: CPNE5

Linked Data

• gnomAD v4: 6-36755006-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36755006G>T , CM000668.2:g.36755006G>T	GRCh38
NC_000006.11:g.36722783G>T , CM000668.1:g.36722783G>T	GRCh37
NC_000006.10:g.36830761G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000633136.2:c.960+1239C>A	ENSP00000487872.2:n.960+1239C>A
ENST00000244751.7:c.909+1239C>A MANE Select	ENSP00000244751.2:n.909+1239C>A
ENST00000244751.6:c.909+1239C>A	ENSP00000244751.2:n.909+1239C>A
ENST00000393189.2:c.33+1239C>A	ENSP00000376885.2:n.33+1239C>A
ENST00000459703.5:n.151+1239C>A
ENST00000493411.2:n.151+1239C>A
ENST00000633929.1:n.159+1239C>A
ENST00000634222.1:n.1409C>A
NM_001314018.1:c.33+1239C>A	NP_001300947.1:n.33+1239C>A
NM_001314019.1:c.-183+1239C>A	NP_001300948.1:n.-183+1239C>A
NM_001314020.1:c.-80+1239C>A	NP_001300949.1:n.-80+1239C>A
NM_020939.1:c.909+1239C>A	NP_065990.1:n.909+1239C>A
XM_005249247.1:c.960+1239C>A	XP_005249304.1:n.960+1239C>A
XM_005249249.2:c.960+1239C>A	XP_005249306.1:n.960+1239C>A
XM_011514768.1:c.960+1239C>A	XP_011513070.1:n.960+1239C>A
XM_011514769.1:c.909+1239C>A	XP_011513071.1:n.909+1239C>A
XM_011514770.1:c.846+1239C>A	XP_011513072.1:n.846+1239C>A
XM_011514771.1:c.846+1239C>A	XP_011513073.1:n.846+1239C>A
XM_011514772.1:c.960+1239C>A	XP_011513074.1:n.960+1239C>A
XM_011514773.1:c.369+1239C>A	XP_011513075.1:n.369+1239C>A
XM_011514774.1:c.960+1239C>A	XP_011513076.1:n.960+1239C>A
XM_011514775.1:c.33+1239C>A	XP_011513077.1:n.33+1239C>A
XM_011514776.1:c.-183+1239C>A	XP_011513078.1:n.-183+1239C>A
XM_011514777.1:c.-80+1239C>A	XP_011513079.1:n.-80+1239C>A
XM_011514778.1:c.-80+1239C>A	XP_011513080.1:n.-80+1239C>A
XR_241909.1:n.1027+1239C>A
XR_926291.1:n.1027+1239C>A
XM_005249247.2:c.960+1239C>A	XP_005249304.1:n.960+1239C>A
XM_011514771.2:c.846+1239C>A	XP_011513073.1:n.846+1239C>A
XM_011514773.2:c.369+1239C>A	XP_011513075.1:n.369+1239C>A
XM_011514775.2:c.33+1239C>A	XP_011513077.1:n.33+1239C>A
XM_017011139.2:c.516+1239C>A	XP_016866628.1:n.516+1239C>A
XM_024446500.1:c.-80+1239C>A	XP_024302268.1:n.-80+1239C>A
XR_001743541.1:n.1027+1239C>A
XR_002956290.1:n.1027+1239C>A
XR_002956291.1:n.1027+1239C>A
NM_020939.2:c.909+1239C>A MANE Select	NP_065990.1:n.909+1239C>A
NM_001314019.2:c.-183+1239C>A	NP_001300948.1:n.-183+1239C>A
NM_001314020.2:c.-80+1239C>A	NP_001300949.1:n.-80+1239C>A
NM_001376888.1:c.-80+1239C>A	NP_001363817.1:n.-80+1239C>A
NM_001376889.1:c.960+1239C>A	NP_001363818.1:n.960+1239C>A
NM_001376890.1:c.33+1239C>A	NP_001363819.1:n.33+1239C>A
NM_001376891.1:c.33+1239C>A	NP_001363820.1:n.33+1239C>A
NM_001376892.1:c.-80+1239C>A	NP_001363821.1:n.-80+1239C>A
NM_001376893.1:c.-183+1239C>A	NP_001363822.1:n.-183+1239C>A
NM_001376894.1:c.33+1239C>A	NP_001363823.1:n.33+1239C>A
NM_001376895.1:c.33+1239C>A	NP_001363824.1:n.33+1239C>A
NM_001314018.2:c.33+1239C>A	NP_001300947.1:n.33+1239C>A