Canonical Allele Identifier: CA165883723

Gene: CPED1

Linked Data

• dbSNP Id: rs901201787
• gnomAD v3: 7-121263705-A-G
• gnomAD v4: 7-121263705-A-G
• MyVariant Identifiers: chr7:g.120903759A>G (hg19) ; chr7:g.121263705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.121263705A>G , CM000669.2:g.121263705A>G	GRCh38
NC_000007.13:g.120903759A>G , CM000669.1:g.120903759A>G	GRCh37
NC_000007.12:g.120690995A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310396.10:c.2311-2522A>G MANE Select	ENSP00000309772.5:n.2311-2522A>G
ENST00000310396.9:c.2311-2522A>G	ENSP00000309772.5:n.2311-2522A>G
NM_024913.4:c.2311-2522A>G	NP_079189.4:n.2311-2522A>G
XM_011516583.1:c.2311-2522A>G	XP_011514885.1:n.2311-2522A>G
XR_927916.1:n.48+2956T>C
XM_024446941.1:c.1798-2522A>G	XP_024302709.1:n.1798-2522A>G
NM_024913.5:c.2311-2522A>G MANE Select	NP_079189.4:n.2311-2522A>G