Canonical Allele Identifier: CA7375347

Gene: CEP170B

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104883051A>C , CM000676.2:g.104883051A>C	GRCh38
NC_000014.8:g.105349388A>C , CM000676.1:g.105349388A>C	GRCh37
NC_000014.7:g.104420433A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414716.8:c.594A>C MANE Select	ENSP00000404151.2:p.Pro198=
ENST00000414716.7:c.594A>C	ENSP00000404151.2:p.Pro198=
ENST00000453495.2:c.597A>C	ENSP00000407238.1:p.Pro199=
ENST00000556508.5:c.384A>C	ENSP00000451249.1:p.Pro128=
NM_001112726.2:c.594A>C	NP_001106197.1:p.Pro198=
NM_015005.2:c.384A>C	NP_055820.2:p.Pro128=
XM_005267550.2:c.594A>C	XP_005267607.1:p.Pro198=
XM_011536665.1:c.594A>C	XP_011534967.1:p.Pro198=
XM_011536666.1:c.594A>C	XP_011534968.1:p.Pro198=
XM_005267550.4:c.594A>C	XP_005267607.1:p.Pro198=
XM_011536665.2:c.594A>C	XP_011534967.1:p.Pro198=
XM_011536666.2:c.594A>C	XP_011534968.1:p.Pro198=
XM_017021227.1:c.822A>C	XP_016876716.1:p.Pro274=
XM_017021228.1:c.822A>C	XP_016876717.1:p.Pro274=
XM_017021229.1:c.822A>C	XP_016876718.1:p.Pro274=
XM_017021230.1:c.822A>C	XP_016876719.1:p.Pro274=
NM_001112726.3:c.594A>C MANE Select	NP_001106197.1:p.Pro198=
NM_015005.3:c.384A>C	NP_055820.2:p.Pro128=