Canonical Allele Identifier: CA344616

Gene: CP

Linked Data

• ClinVar Variation Id: 42155
• ClinVar RCV Id: RCV000034982
• dbSNP Id: rs386134141
• MyVariant Identifiers: chr3:g.148895767C>T (hg19) ; chr3:g.149177980C>T (hg38)
• PubMed: PMID:20301666

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149177980C>T , CM000665.2:g.149177980C>T	GRCh38
NC_000003.11:g.148895767C>T , CM000665.1:g.148895767C>T	GRCh37
NC_000003.10:g.150378457C>T	NCBI36
NG_011800.1:g.49066G>A
NG_011800.2:g.49066G>A
NG_011800.3:g.49066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2879-1G>A MANE Select	ENSP00000264613.6:n.2879-1G>A
ENST00000264613.10:c.2879-1G>A	ENSP00000264613.6:n.2879-1G>A
ENST00000460674.5:n.796-1G>A
ENST00000463556.5:n.401-1G>A
ENST00000479771.5:c.284-1G>A	ENSP00000420367.1:n.284-1G>A
ENST00000481169.5:c.2666-1G>A	ENSP00000418773.1:n.2666-1G>A
ENST00000490639.5:n.2911-1G>A
ENST00000494544.1:c.2228-1G>A	ENSP00000420545.1:n.2228-1G>A
NM_000096.3:c.2879-1G>A	NP_000087.1:n.2879-1G>A
NR_046371.1:n.2919-1G>A
XM_006713499.2:c.2879-1G>A	XP_006713562.1:n.2879-1G>A
XM_006713500.2:c.2879-1G>A	XP_006713563.1:n.2879-1G>A
XM_006713501.2:c.2879-1G>A	XP_006713564.1:n.2879-1G>A
XM_011512435.1:c.2879-1G>A	XP_011510737.1:n.2879-1G>A
XR_427361.2:n.3137-1G>A
XM_006713499.3:c.2879-1G>A	XP_006713562.1:n.2879-1G>A
XM_006713500.4:c.2879-1G>A	XP_006713563.1:n.2879-1G>A
XM_006713501.3:c.2879-1G>A	XP_006713564.1:n.2879-1G>A
XM_011512435.2:c.2879-1G>A	XP_011510737.1:n.2879-1G>A
XM_017005734.2:c.2879-1G>A	XP_016861223.1:n.2879-1G>A
XM_017005735.2:c.2879-1G>A	XP_016861224.1:n.2879-1G>A
XR_427361.3:n.3095-1G>A
NM_000096.4:c.2879-1G>A MANE Select	NP_000087.2:n.2879-1G>A
NR_046371.2:n.2703-1G>A