Canonical Allele Identifier: CA387200272

Gene: CCDC92

Linked Data

• gnomAD v4: 12-123942767-G-A
• MyVariant Identifiers: chr12:g.124427314G>A (hg19) ; chr12:g.123942767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123942767G>A , CM000674.2:g.123942767G>A	GRCh38
NC_000012.11:g.124427314G>A , CM000674.1:g.124427314G>A	GRCh37
NC_000012.10:g.122993267G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000238156.8:c.200C>T MANE Select	ENSP00000238156.3:p.Thr67Ile
ENST00000238156.7:c.200C>T	ENSP00000238156.3:p.Thr67Ile
ENST00000535556.5:c.149C>T	ENSP00000438281.1:p.Thr50Ile
ENST00000539551.5:c.200C>T	ENSP00000442369.1:p.Thr67Ile
ENST00000539761.5:c.200C>T	ENSP00000439441.1:p.Thr67Ile
ENST00000542348.5:n.168C>T
ENST00000544798.2:n.264C>T
ENST00000545135.5:c.149C>T	ENSP00000439526.1:p.Thr50Ile
ENST00000545891.5:c.149C>T	ENSP00000440024.1:p.Thr50Ile
NM_001304957.1:c.200C>T	NP_001291886.1:p.Thr67Ile
NM_001304958.1:c.200C>T	NP_001291887.1:p.Thr67Ile
NM_001304959.1:c.200C>T	NP_001291888.1:p.Thr67Ile
NM_001304960.1:c.200C>T	NP_001291889.1:p.Thr67Ile
NM_001304961.1:c.149C>T	NP_001291890.1:p.Thr50Ile
NM_025140.2:c.200C>T	NP_079416.1:p.Thr67Ile
XM_005253624.1:c.200C>T	XP_005253681.1:p.Thr67Ile
XM_005253624.2:c.200C>T	XP_005253681.1:p.Thr67Ile
XM_024449192.1:c.200C>T	XP_024304960.1:p.Thr67Ile
XM_024449193.1:c.200C>T	XP_024304961.1:p.Thr67Ile
XM_024449194.1:c.200C>T	XP_024304962.1:p.Thr67Ile
XM_024449195.1:c.200C>T	XP_024304963.1:p.Thr67Ile
XM_024449196.1:c.200C>T	XP_024304964.1:p.Thr67Ile
XM_024449197.1:c.200C>T	XP_024304965.1:p.Thr67Ile
XM_024449199.1:c.200C>T	XP_024304967.1:p.Thr67Ile
NM_001304957.2:c.200C>T	NP_001291886.1:p.Thr67Ile
NM_001304958.2:c.200C>T	NP_001291887.1:p.Thr67Ile
NM_001304959.2:c.200C>T	NP_001291888.1:p.Thr67Ile
NM_001304960.2:c.200C>T	NP_001291889.1:p.Thr67Ile
NM_001304961.2:c.149C>T	NP_001291890.1:p.Thr50Ile
NM_025140.3:c.200C>T MANE Select	NP_079416.1:p.Thr67Ile