Canonical Allele Identifier: CA386998091

Gene: SETD1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121822559C>A , CM000674.2:g.121822559C>A	GRCh38
NC_000012.11:g.122260465C>A , CM000674.1:g.122260465C>A	GRCh37
NC_000012.10:g.120744848C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001353345.2:c.3980C>A MANE Select	NP_001340274.1:p.Pro1327His
ENST00000604567.6:c.3980C>A MANE Select	ENSP00000474253.1:p.Pro1327His
NM_001353345.1:c.3980C>A	NP_001340274.1:p.Pro1327His
NM_015048.1:c.3851C>A	NP_055863.1:p.Pro1284His
ENST00000267197.9:c.3851C>A	ENSP00000267197.6:p.Pro1284His
ENST00000542440.5:c.3851C>A	ENSP00000442924.1:p.Pro1284His
ENST00000604567.5:c.3980C>A	ENSP00000474253.1:p.Pro1327His
ENST00000619791.1:c.3980C>A	ENSP00000481531.1:p.Pro1327His
XM_005253858.3:c.3980C>A	XP_005253915.1:p.Pro1327His
XM_005253858.4:c.3980C>A	XP_005253915.1:p.Pro1327His
XM_006719296.2:c.3980C>A	XP_006719359.1:p.Pro1327His
XM_006719296.3:c.3980C>A	XP_006719359.1:p.Pro1327His
XM_011538053.1:c.3980C>A	XP_011536355.1:p.Pro1327His
XM_024448898.1:c.3980C>A	XP_024304666.1:p.Pro1327His