Canonical Allele Identifier: CA15440194
Gene: CPNE5 HGNC NCBI

Linked Data

dbSNP Id: rs10456444

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36755065T>C , CM000668.2:g.36755065T>C GRCh38
NC_000006.11:g.36722842T>C , CM000668.1:g.36722842T>C GRCh37
NC_000006.10:g.36830820T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000244751.6:c.909+1180A>G ENSP00000244751.2:p.=
ENST00000393189.2:c.33+1180A>G ENSP00000376885.2:p.=
NM_001314018.1:c.33+1180A>G NP_001300947.1:p.=
NM_001314019.1:c.-183+1180A>G NP_001300948.1:p.=
NM_001314020.1:c.-80+1180A>G NP_001300949.1:p.=
NM_020939.1:c.909+1180A>G NP_065990.1:p.=
XM_005249247.1:c.960+1180A>G XP_005249304.1:p.=
XM_005249249.2:c.960+1180A>G XP_005249306.1:p.=
XM_011514768.1:c.960+1180A>G XP_011513070.1:p.=
XM_011514769.1:c.909+1180A>G XP_011513071.1:p.=
XM_011514770.1:c.846+1180A>G XP_011513072.1:p.=
XM_011514771.1:c.846+1180A>G XP_011513073.1:p.=
XM_011514772.1:c.960+1180A>G XP_011513074.1:p.=
XM_011514773.1:c.369+1180A>G XP_011513075.1:p.=
XM_011514774.1:c.960+1180A>G XP_011513076.1:p.=
XM_011514775.1:c.33+1180A>G XP_011513077.1:p.=
XM_011514776.1:c.-183+1180A>G XP_011513078.1:p.=
XM_011514777.1:c.-80+1180A>G XP_011513079.1:p.=
XM_011514778.1:c.-80+1180A>G XP_011513080.1:p.=
XM_005249247.2:c.960+1180A>G XP_005249304.1:p.=
XM_011514771.2:c.846+1180A>G XP_011513073.1:p.=
XM_011514773.2:c.369+1180A>G XP_011513075.1:p.=
XM_011514775.2:c.33+1180A>G XP_011513077.1:p.=
XM_017011139.2:c.516+1180A>G XP_016866628.1:p.=
XM_024446500.1:c.-80+1180A>G XP_024302268.1:p.=
NM_020939.2:c.909+1180A>G MANE Select NP_065990.1:p.=
NM_001314019.2:c.-183+1180A>G NP_001300948.1:p.=
NM_001314020.2:c.-80+1180A>G NP_001300949.1:p.=
NM_001376888.1:c.-80+1180A>G NP_001363817.1:p.=
NM_001376889.1:c.960+1180A>G NP_001363818.1:p.=
NM_001376890.1:c.33+1180A>G NP_001363819.1:p.=
NM_001376891.1:c.33+1180A>G NP_001363820.1:p.=
NM_001376892.1:c.-80+1180A>G NP_001363821.1:p.=
NM_001376893.1:c.-183+1180A>G NP_001363822.1:p.=
NM_001376894.1:c.33+1180A>G NP_001363823.1:p.=
NM_001376895.1:c.33+1180A>G NP_001363824.1:p.=
NM_001314018.2:c.33+1180A>G NP_001300947.1:p.=