Canonical Allele Identifier: CA386996312

Gene: SETD1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121817586C>T , CM000674.2:g.121817586C>T	GRCh38
NC_000012.11:g.122255492C>T , CM000674.1:g.122255492C>T	GRCh37
NC_000012.10:g.120739875C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001353345.2:c.3194C>T MANE Select	NP_001340274.1:p.Ser1065Phe
ENST00000604567.6:c.3194C>T MANE Select	ENSP00000474253.1:p.Ser1065Phe
NM_001353345.1:c.3194C>T	NP_001340274.1:p.Ser1065Phe
NM_015048.1:c.3127-11C>T	NP_055863.1:n.3127-11C>T
ENST00000267197.9:c.3124-8C>T	ENSP00000267197.6:n.3124-8C>T
ENST00000542440.5:c.3127-11C>T	ENSP00000442924.1:n.3127-11C>T
ENST00000604567.5:c.3194C>T	ENSP00000474253.1:p.Ser1065Phe
ENST00000619791.1:c.3194C>T	ENSP00000481531.1:p.Ser1065Phe
XM_005253858.3:c.3194C>T	XP_005253915.1:p.Ser1065Phe
XM_005253858.4:c.3194C>T	XP_005253915.1:p.Ser1065Phe
XM_006719296.2:c.3194C>T	XP_006719359.1:p.Ser1065Phe
XM_006719296.3:c.3194C>T	XP_006719359.1:p.Ser1065Phe
XM_011538053.1:c.3194C>T	XP_011536355.1:p.Ser1065Phe
XM_024448898.1:c.3194C>T	XP_024304666.1:p.Ser1065Phe