Canonical Allele Identifier: CA354020961
Community Standard Title: NM_020817.2(CCDC191):c.2350A>C (p.Met784Leu)
Gene: CCDC191 HGNC NCBI
ZDHHC23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.113978968T>G , CM000665.2:g.113978968T>G GRCh38
NC_000003.11:g.113697815T>G , CM000665.1:g.113697815T>G GRCh37
NC_000003.10:g.115180505T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020817.2:c.2350A>C (CCDC191) MANE Select NP_065868.1:p.Met784Leu
ENST00000295878.8:c.2350A>C (CCDC191) MANE Select ENSP00000295878.3:p.Met784Leu
NM_001353766.2:c.2311A>C (CCDC191) NP_001340695.1:p.Met771Leu
NM_001353766.3:c.2311A>C (CCDC191) NP_001340695.1:p.Met771Leu
NM_001353767.2:c.2284A>C (CCDC191) NP_001340696.2:p.Met762Leu
NM_020817.1:c.2350A>C (CCDC191) NP_065868.1:p.Met784Leu
NR_148531.2:n.2566A>C (CCDC191)
NR_148531.3:n.2479A>C (CCDC191)
ENST00000295878.7:c.2350A>C (CCDC191) ENSP00000295878.3:p.Met784Leu
ENST00000460813.5:c.*2419A>C (CCDC191) ENSP00000418382.1:n.*2419A>C
ENST00000527855.1:n.364A>C (CCDC191)
XM_005247681.2:c.1387A>C (CCDC191) XP_005247738.1:p.Met463Leu
XM_005247681.3:c.1387A>C (CCDC191) XP_005247738.1:p.Met463Leu
XM_006713715.1:c.2311A>C (CCDC191) XP_006713778.1:p.Met771Leu
XM_011513051.1:c.2224A>C (CCDC191) XP_011511353.1:p.Met742Leu
XM_011513051.2:c.2224A>C (CCDC191) XP_011511353.1:p.Met742Leu
XM_011513052.1:c.2164A>C (CCDC191) XP_011511354.1:p.Met722Leu
XM_011513052.2:c.2164A>C (CCDC191) XP_011511354.1:p.Met722Leu
XM_011513053.1:c.2095A>C (CCDC191) XP_011511355.1:p.Met699Leu
XM_011513054.1:c.2095A>C (CCDC191) XP_011511356.1:p.Met699Leu
XM_011513054.2:c.2095A>C (CCDC191) XP_011511356.1:p.Met699Leu
XM_011513055.1:c.2350A>C (CCDC191) XP_011511357.1:p.Met784Leu
XM_017006957.1:c.2095A>C (CCDC191) XP_016862446.1:p.Met699Leu
XM_017006959.1:c.1150A>C (CCDC191) XP_016862448.1:p.Met384Leu
XM_024453690.1:c.1978A>C (CCDC191) XP_024309458.1:p.Met660Leu
XR_001740079.1:n.1650+458T>G (ZDHHC23)
XR_001740080.1:n.1630+458T>G (ZDHHC23)
XR_001740081.1:n.1730+458T>G (ZDHHC23)
XR_002959566.1:n.5248A>C (CCDC191)
XR_241479.2:n.1650+458T>G (ZDHHC23)
XR_924118.1:n.1650+458T>G (ZDHHC23)
XR_924118.3:n.1650+458T>G (ZDHHC23)