Canonical Allele Identifier: CA389264373

Gene: CPNE6

Linked Data

• ClinVar Variation Id: 2269637
• ClinVar RCV Id: RCV004125414
• gnomAD v4: 14-24076174-A-G
• MyVariant Identifiers: chr14:g.24545383A>G (hg19) ; chr14:g.24076174A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24076174A>G , CM000676.2:g.24076174A>G	GRCh38
NC_000014.8:g.24545383A>G , CM000676.1:g.24545383A>G	GRCh37
NC_000014.7:g.23615223A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689861.1:c.950A>G MANE Select	ENSP00000510387.1:p.Asn317Ser
ENST00000397016.6:c.950A>G	ENSP00000380211.2:p.Asn317Ser
ENST00000460657.1:n.3182A>G
ENST00000537691.5:c.1115A>G	ENSP00000440077.1:p.Asn372Ser
ENST00000557829.1:n.617A>G
ENST00000558995.5:n.1812A>G
ENST00000560845.1:n.82A>G
NM_001280558.1:c.1115A>G	NP_001267487.1:p.Asn372Ser
NM_006032.3:c.950A>G	NP_006023.1:p.Asn317Ser
XM_005268216.1:c.950A>G	XP_005268273.1:p.Asn317Ser
XM_005268217.1:c.425A>G	XP_005268274.1:p.Asn142Ser
XM_024449744.1:c.1115A>G	XP_024305512.1:p.Asn372Ser
XM_024449745.1:c.950A>G	XP_024305513.1:p.Asn317Ser
XM_024449746.1:c.950A>G	XP_024305514.1:p.Asn317Ser
XM_024449747.1:c.425A>G	XP_024305515.1:p.Asn142Ser
XM_024449748.1:c.173A>G	XP_024305516.1:p.Asn58Ser
XM_024449749.1:c.173A>G	XP_024305517.1:p.Asn58Ser
NM_006032.4:c.950A>G MANE Select	NP_006023.1:p.Asn317Ser
NM_001280558.2:c.1115A>G	NP_001267487.1:p.Asn372Ser
NM_001385056.1:c.950A>G	NP_001371985.1:p.Asn317Ser
NM_001385057.1:c.950A>G	NP_001371986.1:p.Asn317Ser
NM_001385058.1:c.950A>G	NP_001371987.1:p.Asn317Ser
NR_169564.1:n.987A>G