Canonical Allele Identifier: CA297814861

Gene: KCTD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26548317C>A , CM000680.2:g.26548317C>A	GRCh38
NC_000018.9:g.24128281C>A , CM000680.1:g.24128281C>A	GRCh37
NC_000018.8:g.22382279C>A	NCBI36
NG_054919.1:g.114196G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142730.3:c.220G>T MANE Select	NP_001136202.1:p.Asp74Tyr
ENST00000580059.7:c.220G>T MANE Select	ENSP00000463041.2:p.Asp74Tyr
NM_001136205.2:c.-16+574G>T	NP_001129677.1:n.-16+574G>T
NM_001142730.2:c.220G>T	NP_001136202.1:p.Asp74Tyr
NM_001258221.1:c.-16+1412G>T	NP_001245150.1:n.-16+1412G>T
NM_001258221.2:c.-16+1412G>T	NP_001245150.1:n.-16+1412G>T
NM_001258222.1:c.10-47067G>T	NP_001245151.1:n.10-47067G>T
NM_001258222.2:c.10-47067G>T	NP_001245151.1:n.10-47067G>T
NM_001258222.3:c.10-47067G>T	NP_001245151.1:n.10-47067G>T
NM_001351443.1:c.-16+927G>T	NP_001338372.1:n.-16+927G>T
NM_198991.3:c.-15-47067G>T	NP_945342.1:n.-15-47067G>T
NM_198991.4:c.-15-47067G>T	NP_945342.1:n.-15-47067G>T
ENST00000317932.11:c.-15-47067G>T	ENSP00000314831.7:n.-15-47067G>T
ENST00000408011.7:c.-16+574G>T	ENSP00000384367.3:n.-16+574G>T
ENST00000417602.5:c.-16+1412G>T	ENSP00000408405.2:n.-16+1412G>T
ENST00000579973.5:c.-15-47067G>T	ENSP00000464170.1:n.-15-47067G>T
ENST00000580191.5:c.10-47067G>T	ENSP00000464261.1:n.10-47067G>T
ENST00000580638.5:c.-16+1412G>T	ENSP00000462470.1:n.-16+1412G>T
XR_002958168.1:n.568G>T