Canonical Allele Identifier: CA354929685

Gene: CP

Linked Data

• dbSNP Id: rs1725564785
• gnomAD v4: 3-149178529-C-T
• MyVariant Identifiers: chr3:g.148896316C>T (hg19) ; chr3:g.149178529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149178529C>T , CM000665.2:g.149178529C>T	GRCh38
NC_000003.11:g.148896316C>T , CM000665.1:g.148896316C>T	GRCh37
NC_000003.10:g.150379006C>T	NCBI36
NG_011800.1:g.48517G>A
NG_011800.2:g.48517G>A
NG_011800.3:g.48517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2764G>A MANE Select	ENSP00000264613.6:p.Val922Ile
ENST00000264613.10:c.2764G>A	ENSP00000264613.6:p.Val922Ile
ENST00000460674.5:n.681G>A
ENST00000463556.5:n.286G>A
ENST00000479771.5:c.169G>A	ENSP00000420367.1:p.Val57Ile
ENST00000481169.5:c.2551G>A	ENSP00000418773.1:p.Val851Ile
ENST00000490639.5:n.2796G>A
ENST00000494544.1:c.2113G>A	ENSP00000420545.1:p.Val705Ile
NM_000096.3:c.2764G>A	NP_000087.1:p.Val922Ile
NR_046371.1:n.2804G>A
XM_006713499.2:c.2764G>A	XP_006713562.1:p.Val922Ile
XM_006713500.2:c.2764G>A	XP_006713563.1:p.Val922Ile
XM_006713501.2:c.2764G>A	XP_006713564.1:p.Val922Ile
XM_011512435.1:c.2764G>A	XP_011510737.1:p.Val922Ile
XR_427361.2:n.3022G>A
XM_006713499.3:c.2764G>A	XP_006713562.1:p.Val922Ile
XM_006713500.4:c.2764G>A	XP_006713563.1:p.Val922Ile
XM_006713501.3:c.2764G>A	XP_006713564.1:p.Val922Ile
XM_011512435.2:c.2764G>A	XP_011510737.1:p.Val922Ile
XM_017005734.2:c.2764G>A	XP_016861223.1:p.Val922Ile
XM_017005735.2:c.2764G>A	XP_016861224.1:p.Val922Ile
XR_427361.3:n.2980G>A
NM_000096.4:c.2764G>A MANE Select	NP_000087.2:p.Val922Ile
NR_046371.2:n.2588G>A