Canonical Allele Identifier: CA244660788
Gene: SETD1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121827795A>G , CM000674.2:g.121827795A>G GRCh38
NC_000012.11:g.122265701A>G , CM000674.1:g.122265701A>G GRCh37
NC_000012.10:g.120750084A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001353345.2:c.5530A>G MANE Select NP_001340274.1:p.Met1844Val
ENST00000604567.6:c.5530A>G MANE Select ENSP00000474253.1:p.Met1844Val
NM_001353345.1:c.5530A>G NP_001340274.1:p.Met1844Val
NM_015048.1:c.5401A>G NP_055863.1:p.Met1801Val
ENST00000267197.9:c.5401A>G ENSP00000267197.6:p.Met1801Val
ENST00000542440.5:c.5401A>G ENSP00000442924.1:p.Met1801Val
ENST00000604567.5:c.5530A>G ENSP00000474253.1:p.Met1844Val
ENST00000619791.1:c.5530A>G ENSP00000481531.1:p.Met1844Val
XM_005253858.3:c.5530A>G XP_005253915.1:p.Met1844Val
XM_005253858.4:c.5530A>G XP_005253915.1:p.Met1844Val
XM_006719296.2:c.5530A>G XP_006719359.1:p.Met1844Val
XM_006719296.3:c.5530A>G XP_006719359.1:p.Met1844Val
XM_011538053.1:c.5530A>G XP_011536355.1:p.Met1844Val
XM_024448898.1:c.5530A>G XP_024304666.1:p.Met1844Val