Canonical Allele Identifier: CA382834271

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118361926T>A (hg19) ; chr11:g.118491211T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491211T>A , CM000673.2:g.118491211T>A	GRCh38
NC_000011.9:g.118361926T>A , CM000673.1:g.118361926T>A	GRCh37
NC_000011.8:g.117867136T>A	NCBI36
NG_027813.1:g.59722T>A , LRG_613:g.59722T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4811T>A	ENSP00000432391.3:p.Leu1604His
ENST00000710560.1:c.4811T>A	ENSP00000518343.1:p.Leu1604His
ENST00000685498.1:c.488T>A	ENSP00000509293.1:p.Leu163His
ENST00000691053.1:c.4712T>A	ENSP00000509168.1:p.Leu1571His
ENST00000389506.10:c.4712T>A	ENSP00000374157.5:p.Leu1571His
ENST00000534358.8:c.4712T>A MANE Select	ENSP00000436786.2:p.Leu1571His
ENST00000649699.1:c.4598T>A	ENSP00000496927.1:p.Leu1533His
ENST00000389506.9:c.4712T>A	ENSP00000374157.5:p.Leu1571His
ENST00000392873.3:c.848T>A	ENSP00000376612.3:p.Leu283His
ENST00000534358.5:c.4712T>A	ENSP00000436786.1:p.Leu1571His
NM_001197104.1:c.4712T>A , LRG_613t1:c.4712T>A	NP_001184033.1:p.Leu1571His
NM_005933.3:c.4712T>A	NP_005924.2:p.Leu1571His
XM_006718839.2:c.2195T>A	XP_006718902.2:p.Leu732His
XM_011542829.1:c.4811T>A	XP_011541131.1:p.Leu1604His
XM_011542830.1:c.4808T>A	XP_011541132.1:p.Leu1603His
XM_011542831.1:c.4811T>A	XP_011541133.1:p.Leu1604His
XM_011542832.1:c.2618T>A	XP_011541134.1:p.Leu873His
XM_011542833.1:c.2294T>A	XP_011541135.1:p.Leu765His
XM_006718839.3:c.2195T>A	XP_006718902.2:p.Leu732His
XM_011542829.2:c.4811T>A	XP_011541131.1:p.Leu1604His
XM_011542830.2:c.4808T>A	XP_011541132.1:p.Leu1603His
XM_011542831.2:c.4811T>A	XP_011541133.1:p.Leu1604His
XM_011542833.2:c.2294T>A	XP_011541135.1:p.Leu765His
NM_001197104.2:c.4712T>A MANE Select	NP_001184033.1:p.Leu1571His
NM_005933.4:c.4712T>A	NP_005924.2:p.Leu1571His