Canonical Allele Identifier: CA1665852
Gene: CCDC88A HGNC NCBI

Linked Data

ClinVar Variation Id: 502048
ClinVar RCV Id: RCV000591724
dbSNP Id: rs757386372
gnomAD v2: 2-55549779-A-G
gnomAD v3: 2-55322643-A-G
gnomAD v4: 2-55322643-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55322643A>G , CM000664.2:g.55322643A>G GRCh38
NC_000002.11:g.55549779A>G , CM000664.1:g.55549779A>G GRCh37
NC_000002.10:g.55403283A>G NCBI36
NG_031944.1:g.102279T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263630.13:c.3047T>C ENSP00000263630.8:p.Met1016Thr
ENST00000412148.6:c.182T>C ENSP00000390012.1:p.Met61Thr
ENST00000413716.7:c.3047T>C ENSP00000404431.3:p.Met1016Thr
ENST00000426576.6:c.572T>C ENSP00000405080.1:p.Met191Thr
ENST00000436346.7:c.3047T>C MANE Select ENSP00000410608.1:p.Met1016Thr
ENST00000642200.1:c.3047T>C ENSP00000495919.1:p.Met1016Thr
ENST00000642563.1:c.902T>C ENSP00000493994.1:p.Met301Thr
ENST00000643265.1:c.2628T>C
ENST00000643375.1:c.528T>C
ENST00000643413.1:c.3044T>C ENSP00000494811.1:p.Met1015Thr
ENST00000643634.1:n.1925T>C
ENST00000643873.1:n.244T>C
ENST00000644512.1:c.554T>C ENSP00000495933.1:p.Met185Thr
ENST00000645072.1:c.3044T>C ENSP00000494030.1:p.Met1015Thr
ENST00000645311.1:c.3047T>C ENSP00000494054.1:p.Met1016Thr
ENST00000645477.1:c.3047T>C ENSP00000495712.1:p.Met1016Thr
ENST00000645485.1:n.1692T>C
ENST00000645571.1:n.3670T>C
ENST00000645860.1:c.771T>C
ENST00000646285.1:c.1570T>C
ENST00000646796.1:c.3044T>C ENSP00000493703.1:p.Met1015Thr
ENST00000647396.1:c.918T>C
ENST00000647401.1:c.2411T>C ENSP00000496148.1:p.Met804Thr
ENST00000263630.12:c.3047T>C ENSP00000263630.8:p.Met1016Thr
ENST00000336838.10:c.3044T>C ENSP00000338728.6:p.Met1015Thr
ENST00000412148.5:c.182T>C ENSP00000390012.1:p.Met61Thr
ENST00000413716.6:c.3044T>C ENSP00000404431.2:p.Met1015Thr
ENST00000426576.5:c.572T>C ENSP00000405080.1:p.Met191Thr
ENST00000436346.5:c.3047T>C ENSP00000410608.1:p.Met1016Thr
ENST00000456975.1:c.104-3639T>C
NM_001135597.1:c.3044T>C NP_001129069.1:p.Met1015Thr
NM_001254943.1:c.3044T>C NP_001241872.1:p.Met1015Thr
NM_018084.4:c.3047T>C NP_060554.3:p.Met1016Thr
XM_005264418.3:c.3047T>C XP_005264475.1:p.Met1016Thr
XM_005264421.1:c.3047T>C XP_005264478.1:p.Met1016Thr
XM_005264426.1:c.3047T>C XP_005264483.1:p.Met1016Thr
XM_011532964.1:c.2753T>C XP_011531266.1:p.Met918Thr
XM_011532965.1:c.3047T>C XP_011531267.1:p.Met1016Thr
XM_011532966.1:c.3047T>C XP_011531268.1:p.Met1016Thr
XM_011532967.1:c.3047T>C XP_011531269.1:p.Met1016Thr
XM_011532968.1:c.3047T>C XP_011531270.1:p.Met1016Thr
XM_011532969.1:c.3047T>C XP_011531271.1:p.Met1016Thr
NM_001365480.1:c.3047T>C MANE Select NP_001352409.1:p.Met1016Thr
XM_005264418.5:c.3047T>C XP_005264475.1:p.Met1016Thr
XM_005264421.3:c.3047T>C XP_005264478.1:p.Met1016Thr
XM_005264426.3:c.3047T>C XP_005264483.1:p.Met1016Thr
XM_011532966.3:c.3047T>C XP_011531268.1:p.Met1016Thr
XM_011532967.3:c.3047T>C XP_011531269.1:p.Met1016Thr
XM_011532968.3:c.3047T>C XP_011531270.1:p.Met1016Thr
XM_017004476.2:c.3044T>C XP_016859965.1:p.Met1015Thr
XM_017004477.2:c.3047T>C XP_016859966.1:p.Met1016Thr
XM_017004478.2:c.3047T>C XP_016859967.1:p.Met1016Thr
XM_017004479.2:c.3047T>C XP_016859968.1:p.Met1016Thr
XM_017004480.2:c.2822T>C XP_016859969.1:p.Met941Thr
XM_017004481.2:c.3047T>C XP_016859970.1:p.Met1016Thr
NM_001135597.2:c.3044T>C NP_001129069.1:p.Met1015Thr
NM_001254943.2:c.3044T>C NP_001241872.1:p.Met1015Thr
NM_018084.5:c.3047T>C NP_060554.3:p.Met1016Thr