Canonical Allele Identifier: CA85535218

Gene: CP

Linked Data

• dbSNP Id: rs895649892
• gnomAD v2: 3-148904313-T-C
• gnomAD v4: 3-149186526-T-C
• MyVariant Identifiers: chr3:g.148904313T>C (hg19) ; chr3:g.149186526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186526T>C , CM000665.2:g.149186526T>C	GRCh38
NC_000003.11:g.148904313T>C , CM000665.1:g.148904313T>C	GRCh37
NC_000003.10:g.150387003T>C	NCBI36
NG_011800.1:g.40520A>G
NG_011800.2:g.40520A>G
NG_011800.3:g.40520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2071A>G MANE Select	ENSP00000264613.6:p.Thr691Ala
ENST00000264613.10:c.2071A>G	ENSP00000264613.6:p.Thr691Ala
ENST00000462336.5:n.445A>G
ENST00000481169.5:c.1865-1080A>G	ENSP00000418773.1:n.1865-1080A>G
ENST00000489736.5:n.1296A>G
ENST00000490639.5:n.2103A>G
ENST00000494544.1:c.1420A>G	ENSP00000420545.1:p.Thr474Ala
ENST00000497902.5:n.252A>G
NM_000096.3:c.2071A>G	NP_000087.1:p.Thr691Ala
NR_046371.1:n.2118-1080A>G
XM_006713499.2:c.2071A>G	XP_006713562.1:p.Thr691Ala
XM_006713500.2:c.2071A>G	XP_006713563.1:p.Thr691Ala
XM_006713501.2:c.2071A>G	XP_006713564.1:p.Thr691Ala
XM_006713502.2:c.2071A>G	XP_006713565.1:p.Thr691Ala
XM_011512435.1:c.2071A>G	XP_011510737.1:p.Thr691Ala
XR_427361.2:n.2329A>G
XM_006713499.3:c.2071A>G	XP_006713562.1:p.Thr691Ala
XM_006713500.4:c.2071A>G	XP_006713563.1:p.Thr691Ala
XM_006713501.3:c.2071A>G	XP_006713564.1:p.Thr691Ala
XM_011512435.2:c.2071A>G	XP_011510737.1:p.Thr691Ala
XM_017005734.2:c.2071A>G	XP_016861223.1:p.Thr691Ala
XM_017005735.2:c.2071A>G	XP_016861224.1:p.Thr691Ala
XR_427361.3:n.2287A>G
NM_000096.4:c.2071A>G MANE Select	NP_000087.2:p.Thr691Ala
NR_046371.2:n.1902-1080A>G