Canonical Allele Identifier: CA2660674

Gene: CP

Linked Data

• ClinVar Variation Id: 899706
• ClinVar RCV Id: RCV001144439
• dbSNP Id: rs570400135
• ExAC: 3:148897383 C / T
• gnomAD v2: 3-148897383-C-T
• gnomAD v3: 3-149179596-C-T
• gnomAD v4: 3-149179596-C-T
• MyVariant Identifiers: chr3:g.148897383C>T (hg19) ; chr3:g.149179596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149179596C>T , CM000665.2:g.149179596C>T	GRCh38
NC_000003.11:g.148897383C>T , CM000665.1:g.148897383C>T	GRCh37
NC_000003.10:g.150380073C>T	NCBI36
NG_011800.1:g.47450G>A
NG_011800.2:g.47450G>A
NG_011800.3:g.47450G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264613.11:c.2621G>A MANE Select	ENSP00000264613.6:p.Cys874Tyr
ENST00000264613.10:c.2621G>A	ENSP00000264613.6:p.Cys874Tyr
ENST00000460674.5:n.538G>A
ENST00000463556.5:n.143G>A
ENST00000479771.5:c.26G>A	ENSP00000420367.1:p.Cys9Tyr
ENST00000481169.5:c.2408G>A	ENSP00000418773.1:p.Cys803Tyr
ENST00000490639.5:n.2653G>A
ENST00000494544.1:c.1970G>A	ENSP00000420545.1:p.Cys657Tyr
NM_000096.3:c.2621G>A	NP_000087.1:p.Cys874Tyr
NR_046371.1:n.2661G>A
XM_006713499.2:c.2621G>A	XP_006713562.1:p.Cys874Tyr
XM_006713500.2:c.2621G>A	XP_006713563.1:p.Cys874Tyr
XM_006713501.2:c.2621G>A	XP_006713564.1:p.Cys874Tyr
XM_006713502.2:c.2621G>A	XP_006713565.1:p.Cys874Tyr
XM_011512435.1:c.2621G>A	XP_011510737.1:p.Cys874Tyr
XR_427361.2:n.2879G>A
XM_006713499.3:c.2621G>A	XP_006713562.1:p.Cys874Tyr
XM_006713500.4:c.2621G>A	XP_006713563.1:p.Cys874Tyr
XM_006713501.3:c.2621G>A	XP_006713564.1:p.Cys874Tyr
XM_011512435.2:c.2621G>A	XP_011510737.1:p.Cys874Tyr
XM_017005734.2:c.2621G>A	XP_016861223.1:p.Cys874Tyr
XM_017005735.2:c.2621G>A	XP_016861224.1:p.Cys874Tyr
XR_427361.3:n.2837G>A
NM_000096.4:c.2621G>A MANE Select	NP_000087.2:p.Cys874Tyr
NR_046371.2:n.2445G>A