Canonical Allele Identifier: CA4581845
Community Standard Title: NM_170606.3(KMT2C):c.53C>T (p.Pro18Leu)
Gene: KMT2C HGNC NCBI
FABP5P3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152435734G>A , CM000669.2:g.152435734G>A GRCh38
NC_000007.13:g.152132819G>A , CM000669.1:g.152132819G>A GRCh37
NC_000007.12:g.151763752G>A NCBI36
NG_033948.1:g.5272C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.53C>T (KMT2C) MANE Select NP_733751.2:p.Pro18Leu
ENST00000262189.11:c.53C>T (KMT2C) MANE Select ENSP00000262189.6:p.Pro18Leu
NM_170606.2:c.53C>T (KMT2C) NP_733751.2:p.Pro18Leu
ENST00000262189.10:c.53C>T (KMT2C) ENSP00000262189.6:p.Pro18Leu
ENST00000355193.6:c.53C>T (KMT2C) ENSP00000347325.3:p.Pro18Leu
ENST00000452749.1:c.53C>T (KMT2C) ENSP00000410239.1:p.Pro18Leu
ENST00000452749.2:c.53C>T (KMT2C) ENSP00000410239.1:p.Pro18Leu
ENST00000558084.5:c.53C>T (KMT2C) ENSP00000453752.1:p.Pro18Leu
ENST00000649320.1:n.40G>A (FABP5P3)
ENST00000679645.1:c.53C>T (KMT2C) ENSP00000505745.1:p.Pro18Leu
ENST00000679882.1:c.53C>T (KMT2C) ENSP00000506154.1:p.Pro18Leu
ENST00000680039.1:c.53C>T (KMT2C) ENSP00000506132.1:p.Pro18Leu
ENST00000681082.1:c.53C>T (KMT2C) ENSP00000505908.1:p.Pro18Leu
ENST00000682280.1:n.74C>T (KMT2C)
ENST00000682283.1:c.53C>T (KMT2C) ENSP00000507485.1:p.Pro18Leu
ENST00000682301.1:c.53C>T (KMT2C) ENSP00000508269.1:p.Pro18Leu
ENST00000683490.1:c.53C>T (KMT2C) ENSP00000507385.1:p.Pro18Leu
ENST00000683616.1:c.53C>T (KMT2C) ENSP00000507332.1:p.Pro18Leu
ENST00000684278.1:c.53C>T (KMT2C) ENSP00000507948.1:p.Pro18Leu
ENST00000684550.1:c.53C>T (KMT2C) ENSP00000507135.1:p.Pro18Leu
XM_005250025.3:c.53C>T (KMT2C) XP_005250082.1:p.Pro18Leu
XM_005250025.4:c.53C>T (KMT2C) XP_005250082.1:p.Pro18Leu
XM_005250026.2:c.53C>T (KMT2C) XP_005250083.1:p.Pro18Leu
XM_005250026.3:c.53C>T (KMT2C) XP_005250083.1:p.Pro18Leu
XM_005250027.3:c.53C>T (KMT2C) XP_005250084.1:p.Pro18Leu
XM_005250027.4:c.53C>T (KMT2C) XP_005250084.1:p.Pro18Leu
XM_005250028.3:c.53C>T (KMT2C) XP_005250085.1:p.Pro18Leu
XM_005250028.4:c.53C>T (KMT2C) XP_005250085.1:p.Pro18Leu
XM_005250031.3:c.53C>T (KMT2C) XP_005250088.1:p.Pro18Leu
XM_005250031.4:c.53C>T (KMT2C) XP_005250088.1:p.Pro18Leu
XM_006716077.2:c.53C>T (KMT2C) XP_006716140.1:p.Pro18Leu
XM_006716077.3:c.53C>T (KMT2C) XP_006716140.1:p.Pro18Leu
XM_006716078.2:c.53C>T (KMT2C) XP_006716141.1:p.Pro18Leu
XM_006716078.3:c.53C>T (KMT2C) XP_006716141.1:p.Pro18Leu
XM_006716079.2:c.53C>T (KMT2C) XP_006716142.1:p.Pro18Leu
XM_006716079.3:c.53C>T (KMT2C) XP_006716142.1:p.Pro18Leu
XM_011516450.1:c.53C>T (KMT2C) XP_011514752.1:p.Pro18Leu
XM_011516450.2:c.53C>T (KMT2C) XP_011514752.1:p.Pro18Leu
XM_011516451.1:c.53C>T (KMT2C) XP_011514753.1:p.Pro18Leu
XM_011516451.2:c.53C>T (KMT2C) XP_011514753.1:p.Pro18Leu
XM_011516452.1:c.53C>T (KMT2C) XP_011514754.1:p.Pro18Leu
XM_011516452.2:c.53C>T (KMT2C) XP_011514754.1:p.Pro18Leu
XM_011516453.1:c.53C>T (KMT2C) XP_011514755.1:p.Pro18Leu
XM_011516453.2:c.53C>T (KMT2C) XP_011514755.1:p.Pro18Leu
XM_011516456.1:c.53C>T (KMT2C) XP_011514758.1:p.Pro18Leu
XM_011516456.2:c.53C>T (KMT2C) XP_011514758.1:p.Pro18Leu
XM_017012480.1:c.53C>T (KMT2C) XP_016867969.1:p.Pro18Leu
XM_017012481.1:c.53C>T (KMT2C) XP_016867970.1:p.Pro18Leu
XM_017012482.1:c.53C>T (KMT2C) XP_016867971.1:p.Pro18Leu
XM_017012483.1:c.53C>T (KMT2C) XP_016867972.1:p.Pro18Leu
XM_017012484.1:c.53C>T (KMT2C) XP_016867973.1:p.Pro18Leu
XM_017012485.1:c.53C>T (KMT2C) XP_016867974.1:p.Pro18Leu
XM_017012486.1:c.53C>T (KMT2C) XP_016867975.1:p.Pro18Leu
XM_017012488.1:c.53C>T (KMT2C) XP_016867977.1:p.Pro18Leu
XM_024446852.1:c.53C>T (KMT2C) XP_024302620.1:p.Pro18Leu
XM_024446853.1:c.53C>T (KMT2C) XP_024302621.1:p.Pro18Leu
XR_428183.2:n.261C>T (KMT2C)
XR_428183.3:n.285C>T (KMT2C)