Canonical Allele Identifier: CA546941120

Gene: CP

Linked Data

• dbSNP Id: rs1200829253
• gnomAD v2: 3-148897287-C-T
• gnomAD v3: 3-149179500-C-T
• gnomAD v4: 3-149179500-C-T
• MyVariant Identifiers: chr3:g.148897287C>T (hg19) ; chr3:g.149179500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149179500C>T , CM000665.2:g.149179500C>T	GRCh38
NC_000003.11:g.148897287C>T , CM000665.1:g.148897287C>T	GRCh37
NC_000003.10:g.150379977C>T	NCBI36
NG_011800.1:g.47546G>A
NG_011800.2:g.47546G>A
NG_011800.3:g.47546G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264613.11:c.2661+56G>A MANE Select	ENSP00000264613.6:n.2661+56G>A
ENST00000264613.10:c.2661+56G>A	ENSP00000264613.6:n.2661+56G>A
ENST00000460674.5:n.578+56G>A
ENST00000463556.5:n.183+56G>A
ENST00000479771.5:c.66+56G>A	ENSP00000420367.1:n.66+56G>A
ENST00000481169.5:c.2448+56G>A	ENSP00000418773.1:n.2448+56G>A
ENST00000490639.5:n.2693+56G>A
ENST00000494544.1:c.2010+56G>A	ENSP00000420545.1:n.2010+56G>A
NM_000096.3:c.2661+56G>A	NP_000087.1:n.2661+56G>A
NR_046371.1:n.2701+56G>A
XM_006713499.2:c.2661+56G>A	XP_006713562.1:n.2661+56G>A
XM_006713500.2:c.2661+56G>A	XP_006713563.1:n.2661+56G>A
XM_006713501.2:c.2661+56G>A	XP_006713564.1:n.2661+56G>A
XM_006713502.2:c.2661+56G>A	XP_006713565.1:n.2661+56G>A
XM_011512435.1:c.2661+56G>A	XP_011510737.1:n.2661+56G>A
XR_427361.2:n.2919+56G>A
XM_006713499.3:c.2661+56G>A	XP_006713562.1:n.2661+56G>A
XM_006713500.4:c.2661+56G>A	XP_006713563.1:n.2661+56G>A
XM_006713501.3:c.2661+56G>A	XP_006713564.1:n.2661+56G>A
XM_011512435.2:c.2661+56G>A	XP_011510737.1:n.2661+56G>A
XM_017005734.2:c.2661+56G>A	XP_016861223.1:n.2661+56G>A
XM_017005735.2:c.2661+56G>A	XP_016861224.1:n.2661+56G>A
XR_427361.3:n.2877+56G>A
NM_000096.4:c.2661+56G>A MANE Select	NP_000087.2:n.2661+56G>A
NR_046371.2:n.2485+56G>A