Canonical Allele Identifier: CA4169256
Gene: CRPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 359525
ClinVar RCV Id: RCV000394395
dbSNP Id: rs118008517
ExAC: 7:16128968 C / T
gnomAD v2: 7-16128968-C-T
gnomAD v3: 7-16089343-C-T
gnomAD v4: 7-16089343-C-T
MyVariant Identifiers: chr7:g.16128968C>T (hg19) chr7:g.16128968_16128974delinsTGTACGT (hg19) chr7:g.16089343C>T (hg38) chr7:g.16089343_16089349delinsTGTACGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16089343C>T , CM000669.2:g.16089343C>T GRCh38
NC_000007.13:g.16128968C>T , CM000669.1:g.16128968C>T GRCh37
NC_000007.12:g.16095493C>T NCBI36
NG_032690.1:g.336980G>A
NG_032690.2:g.336980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407010.7:c.*2352G>A MANE Select ENSP00000385478.2:n.*2352G>A
ENST00000407010.6:c.3708G>A ENSP00000385478.2:n.3708G>A
NM_001101417.3:c.3558G>A NP_001094887.1:n.3558G>A
NM_001101426.3:c.3708G>A NP_001094896.1:n.3708G>A
XM_011515498.1:c.1251+126723G>A XP_011513800.1:n.1251+126723G>A
NM_001101426.4:c.*2352G>A MANE Select NP_001094896.1:n.*2352G>A
NM_001101417.4:c.*2352G>A NP_001094887.1:n.*2352G>A
NM_001368197.1:c.*2352G>A NP_001355126.1:n.*2352G>A
NR_160656.1:n.3773G>A
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