Canonical Allele Identifier: CA143989

Gene: KCTD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26501144G>C , CM000680.2:g.26501144G>C	GRCh38
NC_000018.9:g.24081108G>C , CM000680.1:g.24081108G>C	GRCh37
NC_000018.8:g.22335106G>C	NCBI36
NG_054919.1:g.161369C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001142730.3:c.1916C>G MANE Select	NP_001136202.1:p.Pro639Arg
ENST00000580059.7:c.1916C>G MANE Select	ENSP00000463041.2:p.Pro639Arg
NM_001136205.2:c.92C>G	NP_001129677.1:p.Pro31Arg
NM_001142730.2:c.1916C>G	NP_001136202.1:p.Pro639Arg
NM_001258221.1:c.92C>G	NP_001245150.1:p.Pro31Arg
NM_001258221.2:c.92C>G	NP_001245150.1:p.Pro31Arg
NM_001258222.1:c.116C>G	NP_001245151.1:p.Pro39Arg
NM_001258222.2:c.116C>G	NP_001245151.1:p.Pro39Arg
NM_001258222.3:c.116C>G	NP_001245151.1:p.Pro39Arg
NM_001351443.1:c.92C>G	NP_001338372.1:p.Pro31Arg
NM_198991.3:c.92C>G	NP_945342.1:p.Pro31Arg
NM_198991.4:c.92C>G	NP_945342.1:p.Pro31Arg
ENST00000317932.11:c.92C>G	ENSP00000314831.7:p.Pro31Arg
ENST00000408011.7:c.92C>G	ENSP00000384367.3:p.Pro31Arg
ENST00000417602.5:c.92C>G	ENSP00000408405.2:p.Pro31Arg
ENST00000578973.1:c.92C>G	ENSP00000463608.1:p.Pro31Arg
ENST00000579973.5:c.92C>G	ENSP00000464170.1:p.Pro31Arg
ENST00000580059.5:c.92C>G	ENSP00000463041.1:p.Pro31Arg
ENST00000580191.5:c.116C>G	ENSP00000464261.1:p.Pro39Arg
ENST00000580638.5:c.92C>G	ENSP00000462470.1:p.Pro31Arg
XR_002958168.1:n.2264C>G