Canonical Allele Identifier: CA2661289
Gene: CP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.149210191C>T
GRCh37 chr3:g.148927978C>T
Revel Score:
ENST00000264613 (MANE Select) 0.972
gnomAD v2:
3:148927978 C / T
gnomAD v3:
3:149210191 C / T
gnomAD v4:
chr3-149210191-C-T
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.0000081 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149210191C>T , CM000665.2:g.149210191C>T GRCh38
NC_000003.11:g.148927978C>T , CM000665.1:g.148927978C>T GRCh37
NC_000003.10:g.150410668C>T NCBI36
NG_011800.1:g.16855G>A
NG_011800.2:g.16855G>A
NG_011800.3:g.16855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264613.11:c.583G>A MANE Select ENSP00000264613.6:p.Gly195Arg
ENST00000264613.10:c.583G>A ENSP00000264613.6:p.Gly195Arg
ENST00000481169.5:c.583G>A ENSP00000418773.1:p.Gly195Arg
ENST00000490639.5:n.615G>A
NM_000096.3:c.583G>A NP_000087.1:p.Gly195Arg
NR_046371.1:n.836G>A
XM_006713499.2:c.583G>A XP_006713562.1:p.Gly195Arg
XM_006713500.2:c.583G>A XP_006713563.1:p.Gly195Arg
XM_006713501.2:c.583G>A XP_006713564.1:p.Gly195Arg
XM_006713502.2:c.583G>A XP_006713565.1:p.Gly195Arg
XM_011512435.1:c.583G>A XP_011510737.1:p.Gly195Arg
XR_427361.2:n.841G>A
XM_006713499.3:c.583G>A XP_006713562.1:p.Gly195Arg
XM_006713500.4:c.583G>A XP_006713563.1:p.Gly195Arg
XM_006713501.3:c.583G>A XP_006713564.1:p.Gly195Arg
XM_011512435.2:c.583G>A XP_011510737.1:p.Gly195Arg
XM_017005734.2:c.583G>A XP_016861223.1:p.Gly195Arg
XM_017005735.2:c.583G>A XP_016861224.1:p.Gly195Arg
XR_427361.3:n.799G>A
NM_000096.4:c.583G>A MANE Select NP_000087.2:p.Gly195Arg
NR_046371.2:n.620G>A
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