Canonical Allele Identifier: CA1106571198
Gene: CPED1 HGNC NCBI

Linked Data

dbSNP Id: rs1792062770
gnomAD v3: 7-121263674-G-A
gnomAD v4: 7-121263674-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.121263674G>A , CM000669.2:g.121263674G>A GRCh38
NC_000007.13:g.120903728G>A , CM000669.1:g.120903728G>A GRCh37
NC_000007.12:g.120690964G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310396.10:c.2311-2553G>A MANE Select ENSP00000309772.5:n.2311-2553G>A
ENST00000310396.9:c.2311-2553G>A ENSP00000309772.5:n.2311-2553G>A
NM_024913.4:c.2311-2553G>A NP_079189.4:n.2311-2553G>A
XM_011516583.1:c.2311-2553G>A XP_011514885.1:n.2311-2553G>A
XR_927916.1:n.48+2987C>T
XM_024446941.1:c.1798-2553G>A XP_024302709.1:n.1798-2553G>A
NM_024913.5:c.2311-2553G>A MANE Select NP_079189.4:n.2311-2553G>A
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