Canonical Allele Identifier: CA2581695553

Gene: CCDC190

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162851501A>C , CM000663.2:g.162851501A>C	GRCh38
NC_000001.10:g.162821291A>C , CM000663.1:g.162821291A>C	GRCh37
NC_000001.9:g.161087915A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367912.7:c.*3264T>G MANE Select	ENSP00000356888.3:n.*3264T>G
ENST00000367912.6:c.*1621T>G	ENSP00000356888.2:n.*1621T>G
ENST00000524691.1:n.152+4131T>G
XM_005245125.2:c.*3264T>G	XP_005245182.1:n.*3264T>G
XM_006711289.2:c.*3264T>G	XP_006711352.1:n.*3264T>G
XM_011509477.1:c.*3264T>G	XP_011507779.1:n.*3264T>G
XR_921772.1:n.4749+15T>G
XM_005245125.3:c.*3264T>G	XP_005245182.1:n.*3264T>G
XM_006711289.3:c.*3264T>G	XP_006711352.1:n.*3264T>G
XM_011509477.2:c.*3264T>G	XP_011507779.1:n.*3264T>G
NM_001394065.1:c.*3264T>G MANE Select	NP_001380994.1:n.*3264T>G
NM_178550.6:c.*3264T>G	NP_848645.3:n.*3264T>G