Canonical Allele Identifier: CA426151814
Community Standard Title: NM_001365480.1(CCDC88A):c.2568T>C (p.Asn856=)
Gene: CCDC88A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55334253A>G , CM000664.2:g.55334253A>G GRCh38
NC_000002.11:g.55561389A>G , CM000664.1:g.55561389A>G GRCh37
NC_000002.10:g.55414893A>G NCBI36
NG_031944.1:g.90669T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365480.1:c.2568T>C MANE Select NP_001352409.1:p.Asn856=
ENST00000436346.7:c.2568T>C MANE Select ENSP00000410608.1:p.Asn856=
NM_001135597.1:c.2568T>C NP_001129069.1:p.Asn856=
NM_001135597.2:c.2568T>C NP_001129069.1:p.Asn856=
NM_001254943.1:c.2568T>C NP_001241872.1:p.Asn856=
NM_001254943.2:c.2568T>C NP_001241872.1:p.Asn856=
NM_018084.4:c.2568T>C NP_060554.3:p.Asn856=
NM_018084.5:c.2568T>C NP_060554.3:p.Asn856=
ENST00000263630.12:c.2568T>C ENSP00000263630.8:p.Asn856=
ENST00000263630.13:c.2568T>C ENSP00000263630.8:p.Asn856=
ENST00000336838.10:c.2568T>C ENSP00000338728.6:p.Asn856=
ENST00000413716.6:c.2568T>C ENSP00000404431.2:p.Asn856=
ENST00000413716.7:c.2568T>C ENSP00000404431.3:p.Asn856=
ENST00000426576.5:c.93T>C ENSP00000405080.1:p.Asn31=
ENST00000426576.6:c.93T>C ENSP00000405080.1:p.Asn31=
ENST00000436346.5:c.2568T>C ENSP00000410608.1:p.Asn856=
ENST00000468534.1:n.98T>C
ENST00000468534.2:n.1485T>C
ENST00000642200.1:c.2568T>C ENSP00000495919.1:p.Asn856=
ENST00000642563.1:c.423T>C ENSP00000493994.1:p.Asn141=
ENST00000643265.1:c.2152T>C
ENST00000643375.1:c.49T>C
ENST00000643413.1:c.2568T>C ENSP00000494811.1:p.Asn856=
ENST00000644512.1:c.75T>C ENSP00000495933.1:p.Asn25=
ENST00000644890.1:n.2874T>C
ENST00000645072.1:c.2568T>C ENSP00000494030.1:p.Asn856=
ENST00000645311.1:c.2568T>C ENSP00000494054.1:p.Asn856=
ENST00000645342.1:n.2992T>C
ENST00000645477.1:c.2568T>C ENSP00000495712.1:p.Asn856=
ENST00000645571.1:n.3191T>C
ENST00000645860.1:c.292T>C
ENST00000646285.1:c.1091T>C
ENST00000646796.1:c.2568T>C ENSP00000493703.1:p.Asn856=
ENST00000647396.1:c.439T>C
ENST00000647401.1:c.1932T>C ENSP00000496148.1:p.Asn644=
XM_005264418.3:c.2568T>C XP_005264475.1:p.Asn856=
XM_005264418.5:c.2568T>C XP_005264475.1:p.Asn856=
XM_005264421.1:c.2568T>C XP_005264478.1:p.Asn856=
XM_005264421.3:c.2568T>C XP_005264478.1:p.Asn856=
XM_005264426.1:c.2568T>C XP_005264483.1:p.Asn856=
XM_005264426.3:c.2568T>C XP_005264483.1:p.Asn856=
XM_011532964.1:c.2274T>C XP_011531266.1:p.Asn758=
XM_011532965.1:c.2568T>C XP_011531267.1:p.Asn856=
XM_011532966.1:c.2568T>C XP_011531268.1:p.Asn856=
XM_011532966.3:c.2568T>C XP_011531268.1:p.Asn856=
XM_011532967.1:c.2568T>C XP_011531269.1:p.Asn856=
XM_011532967.3:c.2568T>C XP_011531269.1:p.Asn856=
XM_011532968.1:c.2568T>C XP_011531270.1:p.Asn856=
XM_011532968.3:c.2568T>C XP_011531270.1:p.Asn856=
XM_011532969.1:c.2568T>C XP_011531271.1:p.Asn856=
XM_017004476.2:c.2568T>C XP_016859965.1:p.Asn856=
XM_017004477.2:c.2568T>C XP_016859966.1:p.Asn856=
XM_017004478.2:c.2568T>C XP_016859967.1:p.Asn856=
XM_017004479.2:c.2568T>C XP_016859968.1:p.Asn856=
XM_017004480.2:c.2343T>C XP_016859969.1:p.Asn781=
XM_017004481.2:c.2568T>C XP_016859970.1:p.Asn856=