Canonical Allele Identifier: CA364183152

Gene: CNPY3

Linked Data

• ClinVar Variation Id: 518429
• ClinVar RCV Id: RCV000615970
• dbSNP Id: rs1554292759
• MyVariant Identifiers: chr6:g.42905455G>C (hg19) ; chr6:g.42937717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42937717G>C , CM000668.2:g.42937717G>C	GRCh38
NC_000006.11:g.42905455G>C , CM000668.1:g.42905455G>C	GRCh37
NC_000006.10:g.43013433G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372836.5:c.373G>C MANE Select	ENSP00000361926.4:p.Gly125Arg
ENST00000372836.4:c.373G>C	ENSP00000361926.4:p.Gly125Arg
ENST00000394142.7:c.372G>C	ENSP00000377698.4:p.Arg124Ser
NM_006586.3:c.373G>C	NP_006577.2:p.Gly125Arg
XM_005248815.2:c.472G>C	XP_005248872.1:p.Gly158Arg
XM_005248817.1:c.106G>C	XP_005248874.1:p.Gly36Arg
XM_005248818.1:c.-3G>C	XP_005248875.1:n.-3G>C
XM_006714967.2:c.205G>C	XP_006715030.1:p.Gly69Arg
XM_006714968.1:c.-3G>C	XP_006715031.1:n.-3G>C
XM_011514252.1:c.394G>C	XP_011512554.1:p.Gly132Arg
NM_001318842.1:c.472G>C	NP_001305771.1:p.Gly158Arg
NM_001318845.1:c.106G>C	NP_001305774.1:p.Gly36Arg
NM_001318856.1:c.8+7996G>C	NP_001305785.1:n.8+7996G>C
NM_001318857.1:c.151+7996G>C	NP_001305786.1:n.151+7996G>C
NM_001318858.1:c.151+7996G>C	NP_001305787.1:n.151+7996G>C
NM_006586.4:c.373G>C	NP_006577.2:p.Gly125Arg
NR_134880.1:n.876G>C
NR_134881.1:n.2069G>C
NR_134882.1:n.752G>C
NR_134888.1:n.690-373G>C
NR_134890.1:n.689+2047G>C
NR_134891.1:n.592+7996G>C
NR_134892.1:n.592+7996G>C
NM_001318856.2:c.8+7996G>C	NP_001305785.1:n.8+7996G>C
NM_001318857.2:c.151+7996G>C	NP_001305786.1:n.151+7996G>C
NM_001318858.2:c.151+7996G>C	NP_001305787.1:n.151+7996G>C
NM_006586.5:c.373G>C MANE Select	NP_006577.2:p.Gly125Arg
NR_134890.2:n.339+2047G>C
NR_134891.2:n.242+7996G>C
NR_134892.2:n.242+7996G>C