Canonical Allele Identifier: CA382836331
Community Standard Title: NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu)
Gene: KMT2A HGNC NCBI
TTC36-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118522038A>C , CM000673.2:g.118522038A>C GRCh38
NC_000011.9:g.118392753A>C , CM000673.1:g.118392753A>C GRCh37
NC_000011.8:g.117897963A>C NCBI36
NG_027813.1:g.90549A>C , LRG_613:g.90549A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11785A>C (KMT2A) MANE Select NP_001184033.1:p.Ile3929Leu
ENST00000534358.8:c.11785A>C (KMT2A) MANE Select ENSP00000436786.2:p.Ile3929Leu
NM_001197104.1:c.11785A>C , LRG_613t1:c.11785A>C (KMT2A) NP_001184033.1:p.Ile3929Leu
NM_005933.3:c.11776A>C (KMT2A) NP_005924.2:p.Ile3926Leu
NM_005933.4:c.11776A>C (KMT2A) NP_005924.2:p.Ile3926Leu
NR_120572.1:n.380-724T>G (TTC36-AS1)
NR_120573.1:n.273-724T>G (TTC36-AS1)
NR_120574.1:n.273-724T>G (TTC36-AS1)
NR_120575.1:n.273-724T>G (TTC36-AS1)
NR_120576.1:n.105-724T>G (TTC36-AS1)
ENST00000389506.10:c.11776A>C (KMT2A) ENSP00000374157.5:p.Ile3926Leu
ENST00000389506.9:c.11776A>C (KMT2A) ENSP00000374157.5:p.Ile3926Leu
ENST00000525408.1:n.698A>C (KMT2A)
ENST00000525408.2:n.700A>C (KMT2A)
ENST00000527839.1:n.1725A>C (KMT2A)
ENST00000527839.2:n.1285A>C (KMT2A)
ENST00000531904.7:c.11884A>C (KMT2A) ENSP00000432391.3:p.Ile3962Leu
ENST00000534358.5:c.11785A>C (KMT2A) ENSP00000436786.1:p.Ile3929Leu
ENST00000648565.1:n.1021A>C (KMT2A)
ENST00000649699.1:c.11662A>C (KMT2A) ENSP00000496927.1:p.Ile3888Leu
ENST00000686588.1:c.881A>C (KMT2A)
ENST00000691053.1:c.11857A>C (KMT2A) ENSP00000509168.1:p.Ile3953Leu
ENST00000710560.1:c.11875A>C (KMT2A) ENSP00000518343.1:p.Ile3959Leu
XM_006718839.2:c.9268A>C (KMT2A) XP_006718902.2:p.Ile3090Leu
XM_006718839.3:c.9268A>C (KMT2A) XP_006718902.2:p.Ile3090Leu
XM_011542829.1:c.11884A>C (KMT2A) XP_011541131.1:p.Ile3962Leu
XM_011542829.2:c.11884A>C (KMT2A) XP_011541131.1:p.Ile3962Leu
XM_011542830.1:c.11881A>C (KMT2A) XP_011541132.1:p.Ile3961Leu
XM_011542830.2:c.11881A>C (KMT2A) XP_011541132.1:p.Ile3961Leu
XM_011542831.1:c.11875A>C (KMT2A) XP_011541133.1:p.Ile3959Leu
XM_011542831.2:c.11875A>C (KMT2A) XP_011541133.1:p.Ile3959Leu
XM_011542832.1:c.9691A>C (KMT2A) XP_011541134.1:p.Ile3231Leu
XM_011542833.1:c.9367A>C (KMT2A) XP_011541135.1:p.Ile3123Leu
XM_011542833.2:c.9367A>C (KMT2A) XP_011541135.1:p.Ile3123Leu