Canonical Allele Identifier: CA387200236

Gene: CCDC92

Linked Data

• dbSNP Id: rs11057401
• gnomAD v4: 12-123942759-T-G
• MyVariant Identifiers: chr12:g.124427306T>G (hg19) ; chr12:g.123942759T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123942759T>G , CM000674.2:g.123942759T>G	GRCh38
NC_000012.11:g.124427306T>G , CM000674.1:g.124427306T>G	GRCh37
NC_000012.10:g.122993259T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000238156.8:c.208A>C MANE Select	ENSP00000238156.3:p.Ser70Arg
ENST00000238156.7:c.208A>C	ENSP00000238156.3:p.Ser70Arg
ENST00000535556.5:c.157A>C	ENSP00000438281.1:p.Ser53Arg
ENST00000539551.5:c.208A>C	ENSP00000442369.1:p.Ser70Arg
ENST00000539761.5:c.208A>C	ENSP00000439441.1:p.Ser70Arg
ENST00000542348.5:n.176A>C
ENST00000544798.2:n.272A>C
ENST00000545135.5:c.157A>C	ENSP00000439526.1:p.Ser53Arg
ENST00000545891.5:c.157A>C	ENSP00000440024.1:p.Ser53Arg
NM_001304957.1:c.208A>C	NP_001291886.1:p.Ser70Arg
NM_001304958.1:c.208A>C	NP_001291887.1:p.Ser70Arg
NM_001304959.1:c.208A>C	NP_001291888.1:p.Ser70Arg
NM_001304960.1:c.208A>C	NP_001291889.1:p.Ser70Arg
NM_001304961.1:c.157A>C	NP_001291890.1:p.Ser53Arg
NM_025140.2:c.208A>C	NP_079416.1:p.Ser70Arg
XM_005253624.1:c.208A>C	XP_005253681.1:p.Ser70Arg
XM_005253624.2:c.208A>C	XP_005253681.1:p.Ser70Arg
XM_024449192.1:c.208A>C	XP_024304960.1:p.Ser70Arg
XM_024449193.1:c.208A>C	XP_024304961.1:p.Ser70Arg
XM_024449194.1:c.208A>C	XP_024304962.1:p.Ser70Arg
XM_024449195.1:c.208A>C	XP_024304963.1:p.Ser70Arg
XM_024449196.1:c.208A>C	XP_024304964.1:p.Ser70Arg
XM_024449197.1:c.208A>C	XP_024304965.1:p.Ser70Arg
XM_024449199.1:c.208A>C	XP_024304967.1:p.Ser70Arg
NM_001304957.2:c.208A>C	NP_001291886.1:p.Ser70Arg
NM_001304958.2:c.208A>C	NP_001291887.1:p.Ser70Arg
NM_001304959.2:c.208A>C	NP_001291888.1:p.Ser70Arg
NM_001304960.2:c.208A>C	NP_001291889.1:p.Ser70Arg
NM_001304961.2:c.157A>C	NP_001291890.1:p.Ser53Arg
NM_025140.3:c.208A>C MANE Select	NP_079416.1:p.Ser70Arg