Canonical Allele Identifier: CA390612417

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91744445C>A (hg19) ; chr14:g.91278101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278101C>A , CM000676.2:g.91278101C>A	GRCh38
NC_000014.8:g.91744445C>A , CM000676.1:g.91744445C>A	GRCh37
NC_000014.7:g.90814198C>A	NCBI36
NG_033118.1:g.144744G>T
NG_033118.2:g.144744G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4879G>T MANE Select	ENSP00000374507.6:p.Ala1627Ser
ENST00000331194.8:c.451G>T	ENSP00000330332.8:p.Ala151Ser
ENST00000334448.5:n.691G>T
ENST00000389857.10:c.4879G>T	ENSP00000374507.6:p.Ala1627Ser
ENST00000556726.5:c.1107G>T
NM_001080414.3:c.4879G>T	NP_001073883.2:p.Ala1627Ser
XM_011536796.1:c.4771G>T	XP_011535098.1:p.Ala1591Ser
XR_429316.2:n.5154G>T
XM_011536796.2:c.4771G>T	XP_011535098.1:p.Ala1591Ser
XM_017021336.1:c.1960G>T	XP_016876825.1:p.Ala654Ser
XR_429316.4:n.5152G>T
NM_001080414.4:c.4879G>T MANE Select	NP_001073883.2:p.Ala1627Ser