Canonical Allele Identifier: CA8922204

Gene: KCTD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26455796G>A , CM000680.2:g.26455796G>A	GRCh38
NC_000018.9:g.24035760G>A , CM000680.1:g.24035760G>A	GRCh37
NC_000018.8:g.22289758G>A	NCBI36
NG_054919.1:g.206717C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142730.3:c.2545C>T MANE Select	NP_001136202.1:p.Arg849Trp
ENST00000580059.7:c.2545C>T MANE Select	ENSP00000463041.2:p.Arg849Trp
NM_001136205.2:c.721C>T	NP_001129677.1:p.Arg241Trp
NM_001142730.2:c.2545C>T	NP_001136202.1:p.Arg849Trp
NM_001258221.1:c.721C>T	NP_001245150.1:p.Arg241Trp
NM_001258221.2:c.721C>T	NP_001245150.1:p.Arg241Trp
NM_001258222.1:c.745C>T	NP_001245151.1:p.Arg249Trp
NM_001258222.2:c.745C>T	NP_001245151.1:p.Arg249Trp
NM_001258222.3:c.745C>T	NP_001245151.1:p.Arg249Trp
NM_001351443.1:c.721C>T	NP_001338372.1:p.Arg241Trp
NM_198991.3:c.721C>T	NP_945342.1:p.Arg241Trp
NM_198991.4:c.721C>T	NP_945342.1:p.Arg241Trp
ENST00000317932.11:c.721C>T	ENSP00000314831.7:p.Arg241Trp
ENST00000408011.7:c.721C>T	ENSP00000384367.3:p.Arg241Trp
ENST00000417602.5:c.721C>T	ENSP00000408405.2:p.Arg241Trp
ENST00000577255.1:n.4507C>T
ENST00000579973.5:c.721C>T	ENSP00000464170.1:p.Arg241Trp
ENST00000580059.5:c.721C>T	ENSP00000463041.1:p.Arg241Trp
ENST00000580191.5:c.745C>T	ENSP00000464261.1:p.Arg249Trp
ENST00000582494.1:n.483C>T
XR_002958168.1:n.2748C>T