Canonical Allele Identifier: CA344593

Gene: CP

Linked Data

• ClinVar Variation Id: 42135
• ClinVar RCV Id: RCV000034962
• dbSNP Id: rs386134134
• gnomAD v3: 3-149221646-C-T
• gnomAD v4: 3-149221646-C-T
• MyVariant Identifiers: chr3:g.148939433C>T (hg19) ; chr3:g.149221646C>T (hg38)
• PubMed: PMID:20301666

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149221646C>T , CM000665.2:g.149221646C>T	GRCh38
NC_000003.11:g.148939433C>T , CM000665.1:g.148939433C>T	GRCh37
NC_000003.10:g.150422123C>T	NCBI36
NG_011800.1:g.5400G>A
NG_011800.2:g.5400G>A
NG_011800.3:g.5400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.146+1G>A MANE Select	ENSP00000264613.6:n.146+1G>A
ENST00000264613.10:c.146+1G>A	ENSP00000264613.6:n.146+1G>A
ENST00000455472.3:c.146+1G>A	ENSP00000426888.1:n.146+1G>A
ENST00000481169.5:c.146+1G>A	ENSP00000418773.1:n.146+1G>A
ENST00000490639.5:n.178+1G>A
NM_000096.3:c.146+1G>A	NP_000087.1:n.146+1G>A
NR_046371.1:n.399+1G>A
XM_006713499.2:c.146+1G>A	XP_006713562.1:n.146+1G>A
XM_006713500.2:c.146+1G>A	XP_006713563.1:n.146+1G>A
XM_006713501.2:c.146+1G>A	XP_006713564.1:n.146+1G>A
XM_006713502.2:c.146+1G>A	XP_006713565.1:n.146+1G>A
XM_011512435.1:c.146+1G>A	XP_011510737.1:n.146+1G>A
XR_427361.2:n.404+1G>A
XM_006713499.3:c.146+1G>A	XP_006713562.1:n.146+1G>A
XM_006713500.4:c.146+1G>A	XP_006713563.1:n.146+1G>A
XM_006713501.3:c.146+1G>A	XP_006713564.1:n.146+1G>A
XM_011512435.2:c.146+1G>A	XP_011510737.1:n.146+1G>A
XM_017005734.2:c.146+1G>A	XP_016861223.1:n.146+1G>A
XM_017005735.2:c.146+1G>A	XP_016861224.1:n.146+1G>A
XR_427361.3:n.362+1G>A
NM_000096.4:c.146+1G>A MANE Select	NP_000087.2:n.146+1G>A
NR_046371.2:n.183+1G>A