Canonical Allele Identifier: CA4169641

Gene: CRPPA

Linked Data

• ClinVar Variation Id: 287941
• ClinVar RCV Id: RCV000330073 ; RCV000548174
• dbSNP Id: rs767978961
• ExAC: 7:16445963 C / G
• gnomAD v2: 7-16445963-C-G
• gnomAD v4: 7-16406338-C-G
• MyVariant Identifiers: chr7:g.16445963C>G (hg19) ; chr7:g.16406338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.16406338C>G , CM000669.2:g.16406338C>G	GRCh38
NC_000007.13:g.16445963C>G , CM000669.1:g.16445963C>G	GRCh37
NC_000007.12:g.16412488C>G	NCBI36
NG_032690.1:g.19985G>C
NG_032690.2:g.19985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407010.7:c.258-1G>C MANE Select	ENSP00000385478.2:n.258-1G>C
ENST00000674759.1:c.-46-1G>C	ENSP00000502749.1:n.-46-1G>C
ENST00000675257.1:c.-46-1G>C	ENSP00000501664.1:n.-46-1G>C
ENST00000676325.1:c.-46-1G>C	ENSP00000502074.1:n.-46-1G>C
ENST00000399310.3:c.258-1G>C	ENSP00000382249.3:n.258-1G>C
ENST00000407010.6:c.258-1G>C	ENSP00000385478.2:n.258-1G>C
NM_001101417.3:c.258-1G>C	NP_001094887.1:n.258-1G>C
NM_001101426.3:c.258-1G>C	NP_001094896.1:n.258-1G>C
XM_006715770.2:c.9-1G>C	XP_006715833.1:n.9-1G>C
XM_011515497.1:c.258-1G>C	XP_011513799.1:n.258-1G>C
XM_011515498.1:c.258-1G>C	XP_011513800.1:n.258-1G>C
XM_011515499.1:c.258-1G>C	XP_011513801.1:n.258-1G>C
XM_011515500.1:c.258-1G>C	XP_011513802.1:n.258-1G>C
XM_011515501.1:c.258-1G>C	XP_011513803.1:n.258-1G>C
XM_011515502.1:c.-46-1G>C	XP_011513804.1:n.-46-1G>C
XM_011515503.1:c.-46-1G>C	XP_011513805.1:n.-46-1G>C
XM_011515504.1:c.-46-1G>C	XP_011513806.1:n.-46-1G>C
XM_011515505.1:c.-46-1G>C	XP_011513807.1:n.-46-1G>C
XM_011515506.1:c.-46-1G>C	XP_011513808.1:n.-46-1G>C
XM_011515507.1:c.-46-1G>C	XP_011513809.1:n.-46-1G>C
XM_011515508.1:c.-46-1G>C	XP_011513810.1:n.-46-1G>C
XM_011515509.1:c.-46-1G>C	XP_011513811.1:n.-46-1G>C
XM_011515510.1:c.258-1G>C	XP_011513812.1:n.258-1G>C
XM_011515511.1:c.258-1G>C	XP_011513813.1:n.258-1G>C
XM_006715770.3:c.9-1G>C	XP_006715833.1:n.9-1G>C
XM_011515499.2:c.258-1G>C	XP_011513801.1:n.258-1G>C
XM_011515500.2:c.258-1G>C	XP_011513802.1:n.258-1G>C
XM_011515501.2:c.258-1G>C	XP_011513803.1:n.258-1G>C
XM_011515508.2:c.-46-1G>C	XP_011513810.1:n.-46-1G>C
XM_011515509.2:c.-46-1G>C	XP_011513811.1:n.-46-1G>C
XM_017012575.1:c.258-1G>C	XP_016868064.1:n.258-1G>C
XM_017012576.1:c.258-1G>C	XP_016868065.1:n.258-1G>C
XM_024446909.1:c.-46-1G>C	XP_024302677.1:n.-46-1G>C
XM_024446910.1:c.-46-1G>C	XP_024302678.1:n.-46-1G>C
XM_024446911.1:c.-46-1G>C	XP_024302679.1:n.-46-1G>C
XM_024446912.1:c.9-1G>C	XP_024302680.1:n.9-1G>C
XR_001744864.1:n.409-1G>C
XR_001744865.1:n.417-1G>C
XR_001744866.1:n.437-1G>C
XR_001744867.1:n.441-1G>C
XR_001744868.1:n.417-1G>C
NM_001101426.4:c.258-1G>C MANE Select	NP_001094896.1:n.258-1G>C
NM_001101417.4:c.258-1G>C	NP_001094887.1:n.258-1G>C
NM_001368197.1:c.258-1G>C	NP_001355126.1:n.258-1G>C
NR_160656.1:n.474-1G>C