Canonical Allele Identifier: CA354932265

Gene: CP

Linked Data

• dbSNP Id: rs1250117082
• gnomAD v2: 3-148904308-C-G
• gnomAD v4: 3-149186521-C-G
• MyVariant Identifiers: chr3:g.148904308C>G (hg19) ; chr3:g.149186521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186521C>G , CM000665.2:g.149186521C>G	GRCh38
NC_000003.11:g.148904308C>G , CM000665.1:g.148904308C>G	GRCh37
NC_000003.10:g.150386998C>G	NCBI36
NG_011800.1:g.40525G>C
NG_011800.2:g.40525G>C
NG_011800.3:g.40525G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2076G>C MANE Select	ENSP00000264613.6:p.Glu692Asp
ENST00000264613.10:c.2076G>C	ENSP00000264613.6:p.Glu692Asp
ENST00000462336.5:n.450G>C
ENST00000481169.5:c.1865-1075G>C	ENSP00000418773.1:n.1865-1075G>C
ENST00000489736.5:n.1301G>C
ENST00000490639.5:n.2108G>C
ENST00000494544.1:c.1425G>C	ENSP00000420545.1:p.Glu475Asp
ENST00000497902.5:n.257G>C
NM_000096.3:c.2076G>C	NP_000087.1:p.Glu692Asp
NR_046371.1:n.2118-1075G>C
XM_006713499.2:c.2076G>C	XP_006713562.1:p.Glu692Asp
XM_006713500.2:c.2076G>C	XP_006713563.1:p.Glu692Asp
XM_006713501.2:c.2076G>C	XP_006713564.1:p.Glu692Asp
XM_006713502.2:c.2076G>C	XP_006713565.1:p.Glu692Asp
XM_011512435.1:c.2076G>C	XP_011510737.1:p.Glu692Asp
XR_427361.2:n.2334G>C
XM_006713499.3:c.2076G>C	XP_006713562.1:p.Glu692Asp
XM_006713500.4:c.2076G>C	XP_006713563.1:p.Glu692Asp
XM_006713501.3:c.2076G>C	XP_006713564.1:p.Glu692Asp
XM_011512435.2:c.2076G>C	XP_011510737.1:p.Glu692Asp
XM_017005734.2:c.2076G>C	XP_016861223.1:p.Glu692Asp
XM_017005735.2:c.2076G>C	XP_016861224.1:p.Glu692Asp
XR_427361.3:n.2292G>C
NM_000096.4:c.2076G>C MANE Select	NP_000087.2:p.Glu692Asp
NR_046371.2:n.1902-1075G>C