Canonical Allele Identifier: CA417541326

Linked Data

ClinVar Variation Id: 2055041
ClinVar RCV Id: RCV002909940
dbSNP Id: rs1265978840
gnomAD v4: 1-42456653-C-T
MyVariant Identifiers: chr1:g.42922324C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42456653C>T , CM000663.2:g.42456653C>T GRCh38
NC_000001.10:g.42922324C>T , CM000663.1:g.42922324C>T GRCh37
NC_000001.9:g.42694911C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372561.4:c.88C>T (PPCS) MANE Select ENSP00000361642.3:p.Leu30=
ENST00000372556.3:c.63+25C>T (PPCS) ENSP00000361637.3:n.63+25C>T
ENST00000372560.3:c.88C>T (PPCS) ENSP00000361641.3:p.Leu30=
ENST00000372561.3:c.88C>T (PPCS) ENSP00000361642.3:p.Leu30=
ENST00000372562.1:c.-12+154C>T (PPCS) ENSP00000361643.1:n.-12+154C>T
ENST00000472013.1:n.110C>T (PPCS)
NM_001077447.2:c.-12+25C>T (PPCS) NP_001070915.1:n.-12+25C>T
NM_001287506.1:c.-12+154C>T (PPCS) NP_001274435.1:n.-12+154C>T
NM_001287507.1:c.-328+154C>T (PPCS) NP_001274436.1:n.-328+154C>T
NM_001287508.1:c.-83C>T (PPCS) NP_001274437.1:n.-83C>T
NM_001287509.1:c.-12+70C>T (PPCS) NP_001274438.1:n.-12+70C>T
NM_001287510.1:c.-605C>T (PPCS) NP_001274439.1:n.-605C>T
NM_001287511.1:c.88C>T (PPCS) NP_001274440.1:p.Leu30=
NM_024664.3:c.88C>T (PPCS) NP_078940.2:p.Leu30=
XR_946757.1:n.134C>T (PPCS)
NM_001355226.1:c.-984+154C>T (CCDC30) NP_001342155.1:n.-984+154C>T
NM_024664.4:c.88C>T (PPCS) MANE Select NP_078940.2:p.Leu30=
NM_001355226.2:c.-984+154C>T (CCDC30) NP_001342155.1:n.-984+154C>T
NM_001077447.3:c.-12+25C>T (PPCS) NP_001070915.1:n.-12+25C>T
NM_001287508.2:c.-83C>T (PPCS) NP_001274437.1:n.-83C>T
NM_001287509.2:c.-12+70C>T (PPCS) NP_001274438.1:n.-12+70C>T
NM_001287510.2:c.-605C>T (PPCS) NP_001274439.1:n.-605C>T
NM_001287511.2:c.88C>T (PPCS) NP_001274440.1:p.Leu30=