Canonical Allele Identifier: CA577242077
Gene: CPED1 HGNC NCBI

Linked Data

dbSNP Id: rs1214210044
gnomAD v2: 7-120903733-T-C
gnomAD v3: 7-121263679-T-C
gnomAD v4: 7-121263679-T-C
MyVariant Identifiers: chr7:g.120903733T>C (hg19) chr7:g.120903733_120903736delinsCTTG (hg19) chr7:g.121263679T>C (hg38) chr7:g.121263679_121263682delinsCTTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.121263679T>C , CM000669.2:g.121263679T>C GRCh38
NC_000007.13:g.120903733T>C , CM000669.1:g.120903733T>C GRCh37
NC_000007.12:g.120690969T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310396.10:c.2311-2548T>C MANE Select ENSP00000309772.5:n.2311-2548T>C
ENST00000310396.9:c.2311-2548T>C ENSP00000309772.5:n.2311-2548T>C
NM_024913.4:c.2311-2548T>C NP_079189.4:n.2311-2548T>C
XM_011516583.1:c.2311-2548T>C XP_011514885.1:n.2311-2548T>C
XR_927916.1:n.48+2982A>G
XM_024446941.1:c.1798-2548T>C XP_024302709.1:n.1798-2548T>C
NM_024913.5:c.2311-2548T>C MANE Select NP_079189.4:n.2311-2548T>C
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