Canonical Allele Identifier: CA354929171

Gene: CP

Linked Data

• dbSNP Id: rs1576727841
• MyVariant Identifiers: chr3:g.148895666T>G (hg19) ; chr3:g.149177879T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149177879T>G , CM000665.2:g.149177879T>G	GRCh38
NC_000003.11:g.148895666T>G , CM000665.1:g.148895666T>G	GRCh37
NC_000003.10:g.150378356T>G	NCBI36
NG_011800.1:g.49167A>C
NG_011800.2:g.49167A>C
NG_011800.3:g.49167A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2979A>C MANE Select	ENSP00000264613.6:p.Leu993Phe
ENST00000264613.10:c.2979A>C	ENSP00000264613.6:p.Leu993Phe
ENST00000460674.5:n.896A>C
ENST00000463556.5:n.501A>C
ENST00000473296.1:n.29A>C
ENST00000479771.5:c.384A>C	ENSP00000420367.1:p.Leu128Phe
ENST00000481169.5:c.2766A>C	ENSP00000418773.1:p.Leu922Phe
ENST00000490639.5:n.3011A>C
ENST00000494544.1:c.2328A>C	ENSP00000420545.1:p.Leu776Phe
NM_000096.3:c.2979A>C	NP_000087.1:p.Leu993Phe
NR_046371.1:n.3019A>C
XM_006713499.2:c.2979A>C	XP_006713562.1:p.Leu993Phe
XM_006713500.2:c.2979A>C	XP_006713563.1:p.Leu993Phe
XM_006713501.2:c.2979A>C	XP_006713564.1:p.Leu993Phe
XM_011512435.1:c.2979A>C	XP_011510737.1:p.Leu993Phe
XR_427361.2:n.3237A>C
XM_006713499.3:c.2979A>C	XP_006713562.1:p.Leu993Phe
XM_006713500.4:c.2979A>C	XP_006713563.1:p.Leu993Phe
XM_006713501.3:c.2979A>C	XP_006713564.1:p.Leu993Phe
XM_011512435.2:c.2979A>C	XP_011510737.1:p.Leu993Phe
XM_017005734.2:c.2979A>C	XP_016861223.1:p.Leu993Phe
XM_017005735.2:c.2979A>C	XP_016861224.1:p.Leu993Phe
XR_427361.3:n.3195A>C
NM_000096.4:c.2979A>C MANE Select	NP_000087.2:p.Leu993Phe
NR_046371.2:n.2803A>C