Canonical Allele Identifier: CA2030189051
Gene: CPNE8 HGNC NCBI

Linked Data

dbSNP Id: rs1938828863
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.38656719A>C , CM000674.2:g.38656719A>C GRCh38
NC_000012.11:g.39050521A>C , CM000674.1:g.39050521A>C GRCh37
NC_000012.10:g.37336788A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331366.10:c.1507-2649T>G MANE Select ENSP00000329748.5:n.1507-2649T>G
ENST00000331366.9:c.1507-2649T>G ENSP00000329748.5:n.1507-2649T>G
ENST00000360449.3:c.1471-2649T>G ENSP00000353633.3:n.1471-2649T>G
ENST00000538596.6:c.514-2649T>G ENSP00000439237.2:n.514-2649T>G
ENST00000546603.5:n.337-2649T>G
ENST00000547417.1:n.268-2649T>G
ENST00000552259.5:n.281-9626T>G
NM_153634.2:c.1507-2649T>G NP_705898.1:n.1507-2649T>G
XR_944501.1:n.2219-2649T>G
XM_017018852.1:c.1024-2649T>G XP_016874341.1:n.1024-2649T>G
XR_944501.3:n.1675-2649T>G
NM_153634.3:c.1507-2649T>G MANE Select NP_705898.1:n.1507-2649T>G
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