Canonical Allele Identifier: CA837351192
Gene: CPVL HGNC NCBI
CPVL-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29001574T>A , CM000669.2:g.29001574T>A GRCh38
NC_000007.13:g.29041190T>A , CM000669.1:g.29041190T>A GRCh37
NC_000007.12:g.29007715T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265394.10:c.1321-5692A>T (CPVL) MANE Select ENSP00000265394.5:n.1321-5692A>T
ENST00000265394.9:c.1321-5692A>T (CPVL) ENSP00000265394.5:n.1321-5692A>T
ENST00000396276.7:c.1321-5692A>T (CPVL) ENSP00000379572.3:n.1321-5692A>T
ENST00000409850.5:c.1321-5692A>T (CPVL) ENSP00000387164.1:n.1321-5692A>T
ENST00000432534.5:c.431-5692A>T (CPVL)
ENST00000455893.6:c.316-5692A>T (CPVL) ENSP00000403580.2:n.316-5692A>T
ENST00000614864.4:c.*272-5692A>T (CPVL) ENSP00000481092.1:n.*272-5692A>T
NM_019029.2:c.1321-5692A>T (CPVL) NP_061902.2:n.1321-5692A>T
NM_031311.3:c.1321-5692A>T (CPVL) NP_112601.3:n.1321-5692A>T
NR_038965.1:n.362+190T>A (CPVL-AS2)
XM_011515437.1:c.1321-5692A>T (CPVL) XP_011513739.1:n.1321-5692A>T
NM_001348052.1:c.1321-5692A>T (CPVL) NP_001334981.1:n.1321-5692A>T
NM_001348054.1:c.1321-5692A>T (CPVL) NP_001334983.1:n.1321-5692A>T
NM_019029.3:c.1321-5692A>T (CPVL) NP_061902.2:n.1321-5692A>T
NM_031311.4:c.1321-5692A>T (CPVL) NP_112601.3:n.1321-5692A>T
XM_017012366.1:c.1048-5692A>T (CPVL) XP_016867855.1:n.1048-5692A>T
NM_031311.5:c.1321-5692A>T (CPVL) MANE Select NP_112601.3:n.1321-5692A>T
NM_001371255.1:c.1321-5692A>T (CPVL) NP_001358184.1:n.1321-5692A>T
NM_001371256.1:c.1321-5692A>T (CPVL) NP_001358185.1:n.1321-5692A>T
NM_001371257.1:c.1321-5692A>T (CPVL) NP_001358186.1:n.1321-5692A>T
NM_001371258.1:c.1321-5692A>T (CPVL) NP_001358187.1:n.1321-5692A>T
NM_001371260.1:c.1321-5692A>T (CPVL) NP_001358189.1:n.1321-5692A>T
NM_001371261.1:c.1321-5692A>T (CPVL) NP_001358190.1:n.1321-5692A>T
NM_001371262.1:c.1321-5692A>T (CPVL) NP_001358191.1:n.1321-5692A>T
NM_001371263.1:c.1321-5692A>T (CPVL) NP_001358192.1:n.1321-5692A>T
NM_001371264.1:c.1363-5692A>T (CPVL) NP_001358193.1:n.1363-5692A>T
NM_001371265.1:c.1111-5692A>T (CPVL) NP_001358194.1:n.1111-5692A>T
NM_001371266.1:c.1111-5692A>T (CPVL) NP_001358195.1:n.1111-5692A>T
NM_001371267.1:c.1111-5692A>T (CPVL) NP_001358196.1:n.1111-5692A>T
NM_001371268.1:c.787-5692A>T (CPVL) NP_001358197.1:n.787-5692A>T