Canonical Allele Identifier: CA354932276

Gene: CP

Linked Data

• MyVariant Identifiers: chr3:g.148904314G>C (hg19) ; chr3:g.149186527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186527G>C , CM000665.2:g.149186527G>C	GRCh38
NC_000003.11:g.148904314G>C , CM000665.1:g.148904314G>C	GRCh37
NC_000003.10:g.150387004G>C	NCBI36
NG_011800.1:g.40519C>G
NG_011800.2:g.40519C>G
NG_011800.3:g.40519C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2070C>G MANE Select	ENSP00000264613.6:p.Asp690Glu
ENST00000264613.10:c.2070C>G	ENSP00000264613.6:p.Asp690Glu
ENST00000462336.5:n.444C>G
ENST00000481169.5:c.1865-1081C>G	ENSP00000418773.1:n.1865-1081C>G
ENST00000489736.5:n.1295C>G
ENST00000490639.5:n.2102C>G
ENST00000494544.1:c.1419C>G	ENSP00000420545.1:p.Asp473Glu
ENST00000497902.5:n.251C>G
NM_000096.3:c.2070C>G	NP_000087.1:p.Asp690Glu
NR_046371.1:n.2118-1081C>G
XM_006713499.2:c.2070C>G	XP_006713562.1:p.Asp690Glu
XM_006713500.2:c.2070C>G	XP_006713563.1:p.Asp690Glu
XM_006713501.2:c.2070C>G	XP_006713564.1:p.Asp690Glu
XM_006713502.2:c.2070C>G	XP_006713565.1:p.Asp690Glu
XM_011512435.1:c.2070C>G	XP_011510737.1:p.Asp690Glu
XR_427361.2:n.2328C>G
XM_006713499.3:c.2070C>G	XP_006713562.1:p.Asp690Glu
XM_006713500.4:c.2070C>G	XP_006713563.1:p.Asp690Glu
XM_006713501.3:c.2070C>G	XP_006713564.1:p.Asp690Glu
XM_011512435.2:c.2070C>G	XP_011510737.1:p.Asp690Glu
XM_017005734.2:c.2070C>G	XP_016861223.1:p.Asp690Glu
XM_017005735.2:c.2070C>G	XP_016861224.1:p.Asp690Glu
XR_427361.3:n.2286C>G
NM_000096.4:c.2070C>G MANE Select	NP_000087.2:p.Asp690Glu
NR_046371.2:n.1902-1081C>G