Canonical Allele Identifier: CA354932271

Gene: CP

Linked Data

• gnomAD v4: 3-149186523-C-T
• MyVariant Identifiers: chr3:g.148904310C>T (hg19) ; chr3:g.149186523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186523C>T , CM000665.2:g.149186523C>T	GRCh38
NC_000003.11:g.148904310C>T , CM000665.1:g.148904310C>T	GRCh37
NC_000003.10:g.150387000C>T	NCBI36
NG_011800.1:g.40523G>A
NG_011800.2:g.40523G>A
NG_011800.3:g.40523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2074G>A MANE Select	ENSP00000264613.6:p.Glu692Lys
ENST00000264613.10:c.2074G>A	ENSP00000264613.6:p.Glu692Lys
ENST00000462336.5:n.448G>A
ENST00000481169.5:c.1865-1077G>A	ENSP00000418773.1:n.1865-1077G>A
ENST00000489736.5:n.1299G>A
ENST00000490639.5:n.2106G>A
ENST00000494544.1:c.1423G>A	ENSP00000420545.1:p.Glu475Lys
ENST00000497902.5:n.255G>A
NM_000096.3:c.2074G>A	NP_000087.1:p.Glu692Lys
NR_046371.1:n.2118-1077G>A
XM_006713499.2:c.2074G>A	XP_006713562.1:p.Glu692Lys
XM_006713500.2:c.2074G>A	XP_006713563.1:p.Glu692Lys
XM_006713501.2:c.2074G>A	XP_006713564.1:p.Glu692Lys
XM_006713502.2:c.2074G>A	XP_006713565.1:p.Glu692Lys
XM_011512435.1:c.2074G>A	XP_011510737.1:p.Glu692Lys
XR_427361.2:n.2332G>A
XM_006713499.3:c.2074G>A	XP_006713562.1:p.Glu692Lys
XM_006713500.4:c.2074G>A	XP_006713563.1:p.Glu692Lys
XM_006713501.3:c.2074G>A	XP_006713564.1:p.Glu692Lys
XM_011512435.2:c.2074G>A	XP_011510737.1:p.Glu692Lys
XM_017005734.2:c.2074G>A	XP_016861223.1:p.Glu692Lys
XM_017005735.2:c.2074G>A	XP_016861224.1:p.Glu692Lys
XR_427361.3:n.2290G>A
NM_000096.4:c.2074G>A MANE Select	NP_000087.2:p.Glu692Lys
NR_046371.2:n.1902-1077G>A