Canonical Allele Identifier: CA389271731

Gene: CPNE6

Linked Data

• ClinVar Variation Id: 2249334
• ClinVar RCV Id: RCV004107004
• MyVariant Identifiers: chr14:g.24546582T>G (hg19) ; chr14:g.24077373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24077373T>G , CM000676.2:g.24077373T>G	GRCh38
NC_000014.8:g.24546582T>G , CM000676.1:g.24546582T>G	GRCh37
NC_000014.7:g.23616422T>G	NCBI36
NG_011697.2:g.42642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689861.1:c.1519T>G MANE Select	ENSP00000510387.1:p.Phe507Val
ENST00000397016.6:c.1519T>G	ENSP00000380211.2:p.Phe507Val
ENST00000460657.1:n.4149T>G
ENST00000537691.5:c.1684T>G	ENSP00000440077.1:p.Phe562Val
ENST00000557829.1:n.1478T>G
ENST00000558995.5:n.2381T>G
NM_001280558.1:c.1684T>G	NP_001267487.1:p.Phe562Val
NM_006032.3:c.1519T>G	NP_006023.1:p.Phe507Val
XM_005268216.1:c.1519T>G	XP_005268273.1:p.Phe507Val
XM_005268217.1:c.994T>G	XP_005268274.1:p.Phe332Val
XM_024449744.1:c.1825T>G	XP_024305512.1:p.Phe609Val
XM_024449745.1:c.1660T>G	XP_024305513.1:p.Phe554Val
XM_024449746.1:c.1519T>G	XP_024305514.1:p.Phe507Val
XM_024449747.1:c.994T>G	XP_024305515.1:p.Phe332Val
XM_024449748.1:c.742T>G	XP_024305516.1:p.Phe248Val
XM_024449749.1:c.742T>G	XP_024305517.1:p.Phe248Val
NM_006032.4:c.1519T>G MANE Select	NP_006023.1:p.Phe507Val
NM_001280558.2:c.1684T>G	NP_001267487.1:p.Phe562Val
NM_001385056.1:c.1519T>G	NP_001371985.1:p.Phe507Val
NM_001385057.1:c.1519T>G	NP_001371986.1:p.Phe507Val
NM_001385058.1:c.1519T>G	NP_001371987.1:p.Phe507Val
NR_169564.1:n.1556T>G