Canonical Allele Identifier: CA4169253

Gene: CRPPA

Linked Data

• ClinVar Variation Id: 359524
• ClinVar RCV Id: RCV000355608
• dbSNP Id: rs9691122
• ExAC: 7:16128952 A / C
• gnomAD v2: 7-16128952-A-C
• gnomAD v3: 7-16089327-A-C
• gnomAD v4: 7-16089327-A-C
• MyVariant Identifiers: chr7:g.16128952A>C (hg19) ; chr7:g.16128952_16128954delinsCAT (hg19) ; chr7:g.16128952_16128956delinsCATAT (hg19) ; chr7:g.16089327A>C (hg38) ; chr7:g.16089327_16089329delinsCAT (hg38) ; chr7:g.16089327_16089331delinsCATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.16089327A>C , CM000669.2:g.16089327A>C	GRCh38
NC_000007.13:g.16128952A>C , CM000669.1:g.16128952A>C	GRCh37
NC_000007.12:g.16095477A>C	NCBI36
NG_032690.1:g.336996T>G
NG_032690.2:g.336996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407010.7:c.*2368T>G MANE Select	ENSP00000385478.2:n.*2368T>G
ENST00000407010.6:c.3724T>G	ENSP00000385478.2:n.3724T>G
NM_001101417.3:c.3574T>G	NP_001094887.1:n.3574T>G
NM_001101426.3:c.3724T>G	NP_001094896.1:n.3724T>G
XM_011515498.1:c.1251+126739T>G	XP_011513800.1:n.1251+126739T>G
NM_001101426.4:c.*2368T>G MANE Select	NP_001094896.1:n.*2368T>G
NM_001101417.4:c.*2368T>G	NP_001094887.1:n.*2368T>G
NM_001368197.1:c.*2368T>G	NP_001355126.1:n.*2368T>G
NR_160656.1:n.3789T>G