Canonical Allele Identifier: CA2660599

Gene: CP

Linked Data

• dbSNP Id: rs757853888
• ExAC: 3:148895740 G / A
• gnomAD v2: 3-148895740-G-A
• gnomAD v3: 3-149177953-G-A
• gnomAD v4: 3-149177953-G-A
• MyVariant Identifiers: chr3:g.148895740G>A (hg19) ; chr3:g.149177953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149177953G>A , CM000665.2:g.149177953G>A	GRCh38
NC_000003.11:g.148895740G>A , CM000665.1:g.148895740G>A	GRCh37
NC_000003.10:g.150378430G>A	NCBI36
NG_011800.1:g.49093C>T
NG_011800.2:g.49093C>T
NG_011800.3:g.49093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2905C>T MANE Select	ENSP00000264613.6:p.Leu969=
ENST00000264613.10:c.2905C>T	ENSP00000264613.6:p.Leu969=
ENST00000460674.5:n.822C>T
ENST00000463556.5:n.427C>T
ENST00000479771.5:c.310C>T	ENSP00000420367.1:p.Leu104=
ENST00000481169.5:c.2692C>T	ENSP00000418773.1:p.Leu898=
ENST00000490639.5:n.2937C>T
ENST00000494544.1:c.2254C>T	ENSP00000420545.1:p.Leu752=
NM_000096.3:c.2905C>T	NP_000087.1:p.Leu969=
NR_046371.1:n.2945C>T
XM_006713499.2:c.2905C>T	XP_006713562.1:p.Leu969=
XM_006713500.2:c.2905C>T	XP_006713563.1:p.Leu969=
XM_006713501.2:c.2905C>T	XP_006713564.1:p.Leu969=
XM_011512435.1:c.2905C>T	XP_011510737.1:p.Leu969=
XR_427361.2:n.3163C>T
XM_006713499.3:c.2905C>T	XP_006713562.1:p.Leu969=
XM_006713500.4:c.2905C>T	XP_006713563.1:p.Leu969=
XM_006713501.3:c.2905C>T	XP_006713564.1:p.Leu969=
XM_011512435.2:c.2905C>T	XP_011510737.1:p.Leu969=
XM_017005734.2:c.2905C>T	XP_016861223.1:p.Leu969=
XM_017005735.2:c.2905C>T	XP_016861224.1:p.Leu969=
XR_427361.3:n.3121C>T
NM_000096.4:c.2905C>T MANE Select	NP_000087.2:p.Leu969=
NR_046371.2:n.2729C>T