Canonical Allele Identifier: CA347691
Gene: CP HGNC NCBI

Linked Data

ClinVar Variation Id: 217866
ClinVar RCV Id: RCV000201933
dbSNP Id: rs34394958

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149177867A>C , CM000665.2:g.149177867A>C GRCh38
NC_000003.11:g.148895654A>C , CM000665.1:g.148895654A>C GRCh37
NC_000003.10:g.150378344A>C NCBI36
NG_011800.1:g.49179T>G
NG_011800.2:g.49179T>G
NG_011800.3:g.49179T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264613.11:c.2991T>G MANE Select ENSP00000264613.6:p.His997Gln
ENST00000264613.10:c.2991T>G ENSP00000264613.6:p.His997Gln
ENST00000460674.5:n.908T>G
ENST00000463556.5:n.513T>G
ENST00000473296.1:n.41T>G
ENST00000479771.5:c.396T>G ENSP00000420367.1:p.His132Gln
ENST00000481169.5:c.2778T>G ENSP00000418773.1:p.His926Gln
ENST00000490639.5:n.3023T>G
ENST00000494544.1:c.2340T>G ENSP00000420545.1:p.His780Gln
NM_000096.3:c.2991T>G NP_000087.1:p.His997Gln
NR_046371.1:n.3031T>G
XM_006713499.2:c.2991T>G XP_006713562.1:p.His997Gln
XM_006713500.2:c.2991T>G XP_006713563.1:p.His997Gln
XM_006713501.2:c.2991T>G XP_006713564.1:p.His997Gln
XM_011512435.1:c.2991T>G XP_011510737.1:p.His997Gln
XR_427361.2:n.3249T>G
XM_006713499.3:c.2991T>G XP_006713562.1:p.His997Gln
XM_006713500.4:c.2991T>G XP_006713563.1:p.His997Gln
XM_006713501.3:c.2991T>G XP_006713564.1:p.His997Gln
XM_011512435.2:c.2991T>G XP_011510737.1:p.His997Gln
XM_017005734.2:c.2991T>G XP_016861223.1:p.His997Gln
XM_017005735.2:c.2991T>G XP_016861224.1:p.His997Gln
XR_427361.3:n.3207T>G
NM_000096.4:c.2991T>G MANE Select NP_000087.2:p.His997Gln
NR_046371.2:n.2815T>G