Canonical Allele Identifier: CA47613611

Gene: CCDC88A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55289187T>G , CM000664.2:g.55289187T>G	GRCh38
NC_000002.11:g.55516323T>G , CM000664.1:g.55516323T>G	GRCh37
NC_000002.10:g.55369827T>G	NCBI36
NG_031944.1:g.135735A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263630.13:c.*2013A>C	ENSP00000263630.8:n.*2013A>C
ENST00000412148.6:c.2703-832A>C	ENSP00000390012.1:n.2703-832A>C
ENST00000413716.7:c.*2013A>C	ENSP00000404431.3:n.*2013A>C
ENST00000436346.7:c.*2013A>C MANE Select	ENSP00000410608.1:n.*2013A>C
ENST00000642200.1:c.*36-832A>C	ENSP00000495919.1:n.*36-832A>C
ENST00000642563.1:c.5340A>C	ENSP00000493994.1:n.5340A>C
ENST00000643265.1:c.6701A>C
ENST00000643375.1:c.4804A>C
ENST00000643413.1:c.7542A>C	ENSP00000494811.1:n.7542A>C
ENST00000644512.1:c.4833A>C	ENSP00000495933.1:n.4833A>C
ENST00000644809.1:n.3217A>C
ENST00000645969.1:n.3446A>C
ENST00000646285.1:c.5927A>C
ENST00000647396.1:c.5419A>C
ENST00000647401.1:c.*2013A>C	ENSP00000496148.1:n.*2013A>C
ENST00000647547.1:c.537-832A>C	ENSP00000493675.1:n.537-832A>C
ENST00000263630.12:c.*2013A>C	ENSP00000263630.8:n.*2013A>C
ENST00000336838.10:c.*2013A>C	ENSP00000338728.6:n.*2013A>C
ENST00000412148.5:c.2703-832A>C	ENSP00000390012.1:n.2703-832A>C
ENST00000413716.6:c.*2013A>C	ENSP00000404431.2:n.*2013A>C
ENST00000436346.5:c.*2013A>C	ENSP00000410608.1:n.*2013A>C
ENST00000444458.5:c.3137A>C
NM_001135597.1:c.*2013A>C	NP_001129069.1:n.*2013A>C
NM_001254943.1:c.*2013A>C	NP_001241872.1:n.*2013A>C
NM_018084.4:c.*2013A>C	NP_060554.3:n.*2013A>C
XM_005264421.1:c.*2013A>C	XP_005264478.1:n.*2013A>C
XM_011532965.1:c.*2013A>C	XP_011531267.1:n.*2013A>C
XM_011532966.1:c.*36-832A>C	XP_011531268.1:n.*36-832A>C
XM_011532967.1:c.*36-832A>C	XP_011531269.1:n.*36-832A>C
XM_011532968.1:c.*2013A>C	XP_011531270.1:n.*2013A>C
NM_001365480.1:c.*2013A>C MANE Select	NP_001352409.1:n.*2013A>C
XM_005264421.3:c.*2013A>C	XP_005264478.1:n.*2013A>C
XM_011532966.3:c.*36-832A>C	XP_011531268.1:n.*36-832A>C
XM_011532967.3:c.*36-832A>C	XP_011531269.1:n.*36-832A>C
XM_011532968.3:c.*2013A>C	XP_011531270.1:n.*2013A>C
XM_017004481.2:c.*36-832A>C	XP_016859970.1:n.*36-832A>C
NM_001135597.2:c.*2013A>C	NP_001129069.1:n.*2013A>C
NM_001254943.2:c.*2013A>C	NP_001241872.1:n.*2013A>C
NM_018084.5:c.*2013A>C	NP_060554.3:n.*2013A>C