Canonical Allele Identifier: CA2660752

Gene: CP

Linked Data

• dbSNP Id: rs780856697
• ExAC: 3:148899887 A / G
• gnomAD v2: 3-148899887-A-G
• gnomAD v4: 3-149182100-A-G
• MyVariant Identifiers: chr3:g.148899887A>G (hg19) ; chr3:g.149182100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149182100A>G , CM000665.2:g.149182100A>G	GRCh38
NC_000003.11:g.148899887A>G , CM000665.1:g.148899887A>G	GRCh37
NC_000003.10:g.150382577A>G	NCBI36
NG_011800.1:g.44946T>C
NG_011800.2:g.44946T>C
NG_011800.3:g.44946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2459T>C MANE Select	ENSP00000264613.6:p.Val820Ala
ENST00000264613.10:c.2459T>C	ENSP00000264613.6:p.Val820Ala
ENST00000481169.5:c.2246T>C	ENSP00000418773.1:p.Val749Ala
ENST00000490639.5:n.2491T>C
ENST00000494544.1:c.1808T>C	ENSP00000420545.1:p.Val603Ala
NM_000096.3:c.2459T>C	NP_000087.1:p.Val820Ala
NR_046371.1:n.2499T>C
XM_006713499.2:c.2459T>C	XP_006713562.1:p.Val820Ala
XM_006713500.2:c.2459T>C	XP_006713563.1:p.Val820Ala
XM_006713501.2:c.2459T>C	XP_006713564.1:p.Val820Ala
XM_006713502.2:c.2459T>C	XP_006713565.1:p.Val820Ala
XM_011512435.1:c.2459T>C	XP_011510737.1:p.Val820Ala
XR_427361.2:n.2717T>C
XM_006713499.3:c.2459T>C	XP_006713562.1:p.Val820Ala
XM_006713500.4:c.2459T>C	XP_006713563.1:p.Val820Ala
XM_006713501.3:c.2459T>C	XP_006713564.1:p.Val820Ala
XM_011512435.2:c.2459T>C	XP_011510737.1:p.Val820Ala
XM_017005734.2:c.2459T>C	XP_016861223.1:p.Val820Ala
XM_017005735.2:c.2459T>C	XP_016861224.1:p.Val820Ala
XR_427361.3:n.2675T>C
NM_000096.4:c.2459T>C MANE Select	NP_000087.2:p.Val820Ala
NR_046371.2:n.2283T>C