Canonical Allele Identifier: CA344481

Gene: CP

Linked Data

• ClinVar Variation Id: 42051
• ClinVar RCV Id: RCV000034879
• dbSNP Id: rs386134125
• MyVariant Identifiers: chr3:g.148927129A>G (hg19) ; chr3:g.149209342A>G (hg38)
• PubMed: PMID:15082597 ; PMID:20301666

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149209342A>G , CM000665.2:g.149209342A>G	GRCh38
NC_000003.11:g.148927129A>G , CM000665.1:g.148927129A>G	GRCh37
NC_000003.10:g.150409819A>G	NCBI36
NG_011800.1:g.17704T>C
NG_011800.2:g.17704T>C
NG_011800.3:g.17704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.650T>C MANE Select	ENSP00000264613.6:p.Phe217Ser
ENST00000264613.10:c.650T>C	ENSP00000264613.6:p.Phe217Ser
ENST00000481169.5:c.650T>C	ENSP00000418773.1:p.Phe217Ser
ENST00000490639.5:n.682T>C
NM_000096.3:c.650T>C	NP_000087.1:p.Phe217Ser
NR_046371.1:n.903T>C
XM_006713499.2:c.650T>C	XP_006713562.1:p.Phe217Ser
XM_006713500.2:c.650T>C	XP_006713563.1:p.Phe217Ser
XM_006713501.2:c.650T>C	XP_006713564.1:p.Phe217Ser
XM_006713502.2:c.650T>C	XP_006713565.1:p.Phe217Ser
XM_011512435.1:c.650T>C	XP_011510737.1:p.Phe217Ser
XR_427361.2:n.908T>C
XM_006713499.3:c.650T>C	XP_006713562.1:p.Phe217Ser
XM_006713500.4:c.650T>C	XP_006713563.1:p.Phe217Ser
XM_006713501.3:c.650T>C	XP_006713564.1:p.Phe217Ser
XM_011512435.2:c.650T>C	XP_011510737.1:p.Phe217Ser
XM_017005734.2:c.650T>C	XP_016861223.1:p.Phe217Ser
XM_017005735.2:c.650T>C	XP_016861224.1:p.Phe217Ser
XR_427361.3:n.866T>C
NM_000096.4:c.650T>C MANE Select	NP_000087.2:p.Phe217Ser
NR_046371.2:n.687T>C