Canonical Allele Identifier: CA6509795

Gene: CPNE8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38762209T>C , CM000674.2:g.38762209T>C	GRCh38
NC_000012.11:g.39156011T>C , CM000674.1:g.39156011T>C	GRCh37
NC_000012.10:g.37442278T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_153634.3:c.583A>G MANE Select	NP_705898.1:p.Ile195Val
ENST00000331366.10:c.583A>G MANE Select	ENSP00000329748.5:p.Ile195Val
NM_153634.2:c.583A>G	NP_705898.1:p.Ile195Val
ENST00000331366.9:c.583A>G	ENSP00000329748.5:p.Ile195Val
ENST00000360449.3:c.547A>G	ENSP00000353633.3:p.Ile183Val
ENST00000551855.1:n.91A>G
XM_011537951.1:c.583A>G	XP_011536253.1:p.Ile195Val
XM_011537951.3:c.583A>G	XP_011536253.1:p.Ile195Val
XM_011537952.1:c.583A>G	XP_011536254.1:p.Ile195Val
XM_011537952.3:c.583A>G	XP_011536254.1:p.Ile195Val
XM_017018852.1:c.100A>G	XP_016874341.1:p.Ile34Val
XR_245896.2:n.1184A>G
XR_245896.4:n.640A>G
XR_944501.1:n.1184A>G
XR_944501.3:n.640A>G