Canonical Allele Identifier: CA386999050

Gene: SETD1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121823036T>C , CM000674.2:g.121823036T>C	GRCh38
NC_000012.11:g.122260942T>C , CM000674.1:g.122260942T>C	GRCh37
NC_000012.10:g.120745325T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001353345.2:c.4457T>C MANE Select	NP_001340274.1:p.Leu1486Ser
ENST00000604567.6:c.4457T>C MANE Select	ENSP00000474253.1:p.Leu1486Ser
NM_001353345.1:c.4457T>C	NP_001340274.1:p.Leu1486Ser
NM_015048.1:c.4328T>C	NP_055863.1:p.Leu1443Ser
ENST00000267197.9:c.4328T>C	ENSP00000267197.6:p.Leu1443Ser
ENST00000542440.5:c.4328T>C	ENSP00000442924.1:p.Leu1443Ser
ENST00000604567.5:c.4457T>C	ENSP00000474253.1:p.Leu1486Ser
ENST00000619791.1:c.4457T>C	ENSP00000481531.1:p.Leu1486Ser
XM_005253858.3:c.4457T>C	XP_005253915.1:p.Leu1486Ser
XM_005253858.4:c.4457T>C	XP_005253915.1:p.Leu1486Ser
XM_006719296.2:c.4457T>C	XP_006719359.1:p.Leu1486Ser
XM_006719296.3:c.4457T>C	XP_006719359.1:p.Leu1486Ser
XM_011538053.1:c.4457T>C	XP_011536355.1:p.Leu1486Ser
XM_024448898.1:c.4457T>C	XP_024304666.1:p.Leu1486Ser