Canonical Allele Identifier: CA390615298

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91291030C>A , CM000676.2:g.91291030C>A	GRCh38
NC_000014.8:g.91757374C>A , CM000676.1:g.91757374C>A	GRCh37
NC_000014.7:g.90827127C>A	NCBI36
NG_033118.1:g.131815G>T
NG_033118.2:g.131815G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4167G>T MANE Select	NP_001073883.2:p.Met1389Ile
ENST00000389857.11:c.4167G>T MANE Select	ENSP00000374507.6:p.Met1389Ile
NM_001080414.3:c.4167G>T	NP_001073883.2:p.Met1389Ile
ENST00000389857.10:c.4167G>T	ENSP00000374507.6:p.Met1389Ile
ENST00000555995.1:n.42G>T
XM_005267691.3:c.4167G>T	XP_005267748.1:p.Met1389Ile
XM_005267691.5:c.4167G>T	XP_005267748.1:p.Met1389Ile
XM_011536796.1:c.4059G>T	XP_011535098.1:p.Met1353Ile
XM_011536796.2:c.4059G>T	XP_011535098.1:p.Met1353Ile
XM_017021335.2:c.4167G>T	XP_016876824.1:p.Met1389Ile
XM_017021336.1:c.1248G>T	XP_016876825.1:p.Met416Ile
XR_429316.2:n.4295G>T
XR_429316.4:n.4293G>T
XR_943459.1:n.4295G>T