Canonical Allele Identifier: CA628877610

Gene: KCTD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26546856C>T , CM000680.2:g.26546856C>T	GRCh38
NC_000018.9:g.24126820C>T , CM000680.1:g.24126820C>T	GRCh37
NC_000018.8:g.22380818C>T	NCBI36
NG_054919.1:g.115657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580059.7:c.1681G>A MANE Select	ENSP00000463041.2:p.Glu561Lys
ENST00000317932.11:c.-15-45606G>A	ENSP00000314831.7:n.-15-45606G>A
ENST00000408011.7:c.-16+2035G>A	ENSP00000384367.3:n.-16+2035G>A
ENST00000417602.5:c.-16+2873G>A	ENSP00000408405.2:n.-16+2873G>A
ENST00000578973.1:c.-144G>A	ENSP00000463608.1:n.-144G>A
ENST00000579973.5:c.-15-45606G>A	ENSP00000464170.1:n.-15-45606G>A
ENST00000580059.5:c.-144G>A	ENSP00000463041.1:n.-144G>A
ENST00000580191.5:c.10-45606G>A	ENSP00000464261.1:n.10-45606G>A
ENST00000580638.5:c.-16+2873G>A	ENSP00000462470.1:n.-16+2873G>A
NM_001136205.2:c.-16+2035G>A	NP_001129677.1:n.-16+2035G>A
NM_001142730.2:c.1681G>A	NP_001136202.1:p.Glu561Lys
NM_001258221.1:c.-16+2873G>A	NP_001245150.1:n.-16+2873G>A
NM_001258222.1:c.10-45606G>A	NP_001245151.1:n.10-45606G>A
NM_198991.3:c.-15-45606G>A	NP_945342.1:n.-15-45606G>A
NM_001258222.2:c.10-45606G>A	NP_001245151.1:n.10-45606G>A
NM_001351443.1:c.-16+2388G>A	NP_001338372.1:n.-16+2388G>A
XR_002958168.1:n.2029G>A
NM_001142730.3:c.1681G>A MANE Select	NP_001136202.1:p.Glu561Lys
NM_001258222.3:c.10-45606G>A	NP_001245151.1:n.10-45606G>A
NM_001258221.2:c.-16+2873G>A	NP_001245150.1:n.-16+2873G>A
NM_198991.4:c.-15-45606G>A	NP_945342.1:n.-15-45606G>A