Canonical Allele Identifier: CA127255

Gene: CP

Linked Data

• ClinVar Variation Id: 17559
• ClinVar RCV Id: RCV000019114
• dbSNP Id: rs386134142
• MyVariant Identifiers: chr3:g.148894200C>T (hg19) ; chr3:g.149176413C>T (hg38)
• PubMed: PMID:1458725 ; PMID:7539672 ; PMID:20301666

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149176413C>T , CM000665.2:g.149176413C>T	GRCh38
NC_000003.11:g.148894200C>T , CM000665.1:g.148894200C>T	GRCh37
NC_000003.10:g.150376890C>T	NCBI36
NG_011800.1:g.50633G>A
NG_011800.2:g.50633G>A
NG_011800.3:g.50633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.3019-1G>A MANE Select	ENSP00000264613.6:n.3019-1G>A
ENST00000264613.10:c.3019-1G>A	ENSP00000264613.6:n.3019-1G>A
ENST00000460674.5:n.936-62G>A
ENST00000463556.5:n.541-1G>A
ENST00000473296.1:n.69-1G>A
ENST00000474204.1:n.302G>A
ENST00000479771.5:c.424-1G>A	ENSP00000420367.1:n.424-1G>A
ENST00000481169.5:c.2805+1427G>A	ENSP00000418773.1:n.2805+1427G>A
ENST00000494544.1:c.2368-1G>A	ENSP00000420545.1:n.2368-1G>A
NM_000096.3:c.3019-1G>A	NP_000087.1:n.3019-1G>A
NR_046371.1:n.3058+1427G>A
XM_006713499.2:c.3019-1G>A	XP_006713562.1:n.3019-1G>A
XM_006713500.2:c.3019-1G>A	XP_006713563.1:n.3019-1G>A
XM_006713501.2:c.3019-1G>A	XP_006713564.1:n.3019-1G>A
XM_011512435.1:c.3019-1G>A	XP_011510737.1:n.3019-1G>A
XR_427361.2:n.3276+1427G>A
XM_006713499.3:c.3019-1G>A	XP_006713562.1:n.3019-1G>A
XM_006713500.4:c.3019-1G>A	XP_006713563.1:n.3019-1G>A
XM_006713501.3:c.3019-1G>A	XP_006713564.1:n.3019-1G>A
XM_011512435.2:c.3019-1G>A	XP_011510737.1:n.3019-1G>A
XM_017005734.2:c.3019-1G>A	XP_016861223.1:n.3019-1G>A
XM_017005735.2:c.3018+1427G>A	XP_016861224.1:n.3018+1427G>A
XR_427361.3:n.3234+1427G>A
NM_000096.4:c.3019-1G>A MANE Select	NP_000087.2:n.3019-1G>A
NR_046371.2:n.2842+1427G>A