Canonical Allele Identifier: CA390610727

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739885A>G (hg19) ; chr14:g.91273541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273541A>G , CM000676.2:g.91273541A>G	GRCh38
NC_000014.8:g.91739885A>G , CM000676.1:g.91739885A>G	GRCh37
NC_000014.7:g.90809638A>G	NCBI36
NG_033118.1:g.149304T>C
NG_033118.2:g.149304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5171T>C MANE Select	ENSP00000374507.6:p.Met1724Thr
ENST00000331194.8:c.743T>C	ENSP00000330332.8:p.Met248Thr
ENST00000334448.5:n.983T>C
ENST00000389857.10:c.5171T>C	ENSP00000374507.6:p.Met1724Thr
ENST00000556726.5:c.1399T>C
NM_001080414.3:c.5171T>C	NP_001073883.2:p.Met1724Thr
XM_011536796.1:c.5063T>C	XP_011535098.1:p.Met1688Thr
XR_429316.2:n.5446T>C
XM_011536796.2:c.5063T>C	XP_011535098.1:p.Met1688Thr
XM_017021336.1:c.2252T>C	XP_016876825.1:p.Met751Thr
XR_429316.4:n.5444T>C
NM_001080414.4:c.5171T>C MANE Select	NP_001073883.2:p.Met1724Thr