Canonical Allele Identifier: CA354932343

Gene: CP

Linked Data

• MyVariant Identifiers: chr3:g.148904344T>G (hg19) ; chr3:g.149186557T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186557T>G , CM000665.2:g.149186557T>G	GRCh38
NC_000003.11:g.148904344T>G , CM000665.1:g.148904344T>G	GRCh37
NC_000003.10:g.150387034T>G	NCBI36
NG_011800.1:g.40489A>C
NG_011800.2:g.40489A>C
NG_011800.3:g.40489A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2040A>C MANE Select	ENSP00000264613.6:p.Gln680His
ENST00000264613.10:c.2040A>C	ENSP00000264613.6:p.Gln680His
ENST00000462336.5:n.414A>C
ENST00000481169.5:c.1865-1111A>C	ENSP00000418773.1:n.1865-1111A>C
ENST00000489736.5:n.1265A>C
ENST00000490639.5:n.2072A>C
ENST00000494544.1:c.1389A>C	ENSP00000420545.1:p.Gln463His
ENST00000497902.5:n.221A>C
NM_000096.3:c.2040A>C	NP_000087.1:p.Gln680His
NR_046371.1:n.2118-1111A>C
XM_006713499.2:c.2040A>C	XP_006713562.1:p.Gln680His
XM_006713500.2:c.2040A>C	XP_006713563.1:p.Gln680His
XM_006713501.2:c.2040A>C	XP_006713564.1:p.Gln680His
XM_006713502.2:c.2040A>C	XP_006713565.1:p.Gln680His
XM_011512435.1:c.2040A>C	XP_011510737.1:p.Gln680His
XR_427361.2:n.2298A>C
XM_006713499.3:c.2040A>C	XP_006713562.1:p.Gln680His
XM_006713500.4:c.2040A>C	XP_006713563.1:p.Gln680His
XM_006713501.3:c.2040A>C	XP_006713564.1:p.Gln680His
XM_011512435.2:c.2040A>C	XP_011510737.1:p.Gln680His
XM_017005734.2:c.2040A>C	XP_016861223.1:p.Gln680His
XM_017005735.2:c.2040A>C	XP_016861224.1:p.Gln680His
XR_427361.3:n.2256A>C
NM_000096.4:c.2040A>C MANE Select	NP_000087.2:p.Gln680His
NR_046371.2:n.1902-1111A>C