Canonical Allele Identifier: CA1697139390

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29144783G= , CM000669.2:g.29144783G= GRCh38
NC_000007.13:g.29184399G= , CM000669.1:g.29184399G= GRCh37
NC_000007.12:g.29150924G= NCBI36
NG_029365.2:g.3237G=

Transcript Alleles

HGVS Amino-acid change
ENST00000265394.10:c.-11+1646C= (CPVL) MANE Select ENSP00000265394.5:n.-11+1646C=
ENST00000644824.1:c.-730-1071G= ENSP00000495614.1:n.-730-1071G=
ENST00000265394.9:c.-11+1646C= (CPVL) ENSP00000265394.5:n.-11+1646C=
ENST00000396276.7:c.-11+1558C= (CPVL) ENSP00000379572.3:n.-11+1558C=
ENST00000409850.5:c.-10-23712C= (CPVL) ENSP00000387164.1:n.-10-23712C=
ENST00000423511.1:c.-730-1071G= (CHN2) ENSP00000462650.1:n.-730-1071G=
ENST00000437527.1:c.-10-23712C= (CPVL) ENSP00000416555.1:n.-10-23712C=
ENST00000449801.5:c.-10-23712C= (CPVL) ENSP00000413287.1:n.-10-23712C=
ENST00000455544.5:c.-10-23712C= (CPVL) ENSP00000412857.1:n.-10-23712C=
ENST00000488891.6:n.284-23712C= (CPVL)
ENST00000578605.1:n.191-1071G= (CHN2)
ENST00000612187.4:c.-359+1646C= (CPVL) ENSP00000479581.1:n.-359+1646C=
NM_019029.2:c.-11+1558C= (CPVL) NP_061902.2:n.-11+1558C=
NM_031311.3:c.-11+1646C= (CPVL) NP_112601.3:n.-11+1646C=
XM_011515437.1:c.-11+1338C= (CPVL) XP_011513739.1:n.-11+1338C=
NM_001348052.1:c.-10-23712C= (CPVL) NP_001334981.1:n.-10-23712C=
NM_001348054.1:c.-10-23712C= (CPVL) NP_001334983.1:n.-10-23712C=
NM_019029.3:c.-11+1558C= (CPVL) NP_061902.2:n.-11+1558C=
NM_031311.4:c.-11+1646C= (CPVL) NP_112601.3:n.-11+1646C=
XM_017012366.1:c.-11+1646C= (CPVL) XP_016867855.1:n.-11+1646C=
NM_031311.5:c.-11+1646C= (CPVL) MANE Select NP_112601.3:n.-11+1646C=
NM_001371255.1:c.-10-23712C= (CPVL) NP_001358184.1:n.-10-23712C=
NM_001371256.1:c.-10-23712C= (CPVL) NP_001358185.1:n.-10-23712C=
NM_001371257.1:c.-10-23712C= (CPVL) NP_001358186.1:n.-10-23712C=
NM_001371258.1:c.-10-23712C= (CPVL) NP_001358187.1:n.-10-23712C=
NM_001371260.1:c.-10-23712C= (CPVL) NP_001358189.1:n.-10-23712C=
NM_001371261.1:c.-10-23712C= (CPVL) NP_001358190.1:n.-10-23712C=
NM_001371262.1:c.-10-23712C= (CPVL) NP_001358191.1:n.-10-23712C=
NM_001371263.1:c.-10-23712C= (CPVL) NP_001358192.1:n.-10-23712C=
NM_001371264.1:c.-10-23712C= (CPVL) NP_001358193.1:n.-10-23712C=
NM_001371265.1:c.-496-23712C= (CPVL) NP_001358194.1:n.-496-23712C=
NM_001371266.1:c.-364-23712C= (CPVL) NP_001358195.1:n.-364-23712C=
NM_001371267.1:c.-337-23712C= (CPVL) NP_001358196.1:n.-337-23712C=
NM_001371268.1:c.-71-23712C= (CPVL) NP_001358197.1:n.-71-23712C=