Canonical Allele Identifier: CA4580301
Community Standard Title: NM_170606.3(KMT2C):c.5198C>T (p.Ser1733Leu)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152183041G>A , CM000669.2:g.152183041G>A GRCh38
NC_000007.13:g.151880126G>A , CM000669.1:g.151880126G>A GRCh37
NC_000007.12:g.151511059G>A NCBI36
NG_033948.1:g.257965C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.5198C>T MANE Select NP_733751.2:p.Ser1733Leu
ENST00000262189.11:c.5198C>T MANE Select ENSP00000262189.6:p.Ser1733Leu
NM_170606.2:c.5198C>T NP_733751.2:p.Ser1733Leu
ENST00000262189.10:c.5198C>T ENSP00000262189.6:p.Ser1733Leu
ENST00000355193.6:c.5198C>T ENSP00000347325.3:p.Ser1733Leu
ENST00000360104.8:c.820C>T
ENST00000473186.5:n.2909C>T
ENST00000558084.5:c.*2718C>T ENSP00000453752.1:n.*2718C>T
ENST00000679645.1:c.*1291C>T ENSP00000505745.1:n.*1291C>T
ENST00000679882.1:c.4973C>T ENSP00000506154.1:p.Ser1658Leu
ENST00000680969.1:c.2594C>T ENSP00000505951.1:p.Ser865Leu
ENST00000681033.1:c.3896C>T ENSP00000505058.1:p.Ser1299Leu
ENST00000681755.1:n.123C>T
ENST00000682176.1:c.1917C>T
ENST00000682283.1:c.5198C>T ENSP00000507485.1:p.Ser1733Leu
ENST00000683159.1:c.576-447C>T
ENST00000683200.1:c.2546C>T ENSP00000508052.1:p.Ser849Leu
XM_005250025.3:c.5249C>T XP_005250082.1:p.Ser1750Leu
XM_005250025.4:c.5249C>T XP_005250082.1:p.Ser1750Leu
XM_005250026.2:c.5246C>T XP_005250083.1:p.Ser1749Leu
XM_005250026.3:c.5246C>T XP_005250083.1:p.Ser1749Leu
XM_005250027.3:c.5249C>T XP_005250084.1:p.Ser1750Leu
XM_005250027.4:c.5249C>T XP_005250084.1:p.Ser1750Leu
XM_005250028.3:c.5249C>T XP_005250085.1:p.Ser1750Leu
XM_005250028.4:c.5249C>T XP_005250085.1:p.Ser1750Leu
XM_005250031.3:c.5249C>T XP_005250088.1:p.Ser1750Leu
XM_005250031.4:c.5249C>T XP_005250088.1:p.Ser1750Leu
XM_006716077.2:c.5249C>T XP_006716140.1:p.Ser1750Leu
XM_006716077.3:c.5249C>T XP_006716140.1:p.Ser1750Leu
XM_006716078.2:c.5249C>T XP_006716141.1:p.Ser1750Leu
XM_006716078.3:c.5249C>T XP_006716141.1:p.Ser1750Leu
XM_006716079.2:c.5249C>T XP_006716142.1:p.Ser1750Leu
XM_006716079.3:c.5249C>T XP_006716142.1:p.Ser1750Leu
XM_011516450.1:c.5201C>T XP_011514752.1:p.Ser1734Leu
XM_011516450.2:c.5201C>T XP_011514752.1:p.Ser1734Leu
XM_011516451.1:c.5129C>T XP_011514753.1:p.Ser1710Leu
XM_011516451.2:c.5129C>T XP_011514753.1:p.Ser1710Leu
XM_011516452.1:c.5096C>T XP_011514754.1:p.Ser1699Leu
XM_011516452.2:c.5096C>T XP_011514754.1:p.Ser1699Leu
XM_011516453.1:c.5249C>T XP_011514755.1:p.Ser1750Leu
XM_011516453.2:c.5249C>T XP_011514755.1:p.Ser1750Leu
XM_011516454.1:c.4334C>T XP_011514756.1:p.Ser1445Leu
XM_011516454.2:c.4334C>T XP_011514756.1:p.Ser1445Leu
XM_011516455.1:c.2795C>T XP_011514757.1:p.Ser932Leu
XM_011516456.1:c.5201C>T XP_011514758.1:p.Ser1734Leu
XM_011516456.2:c.5201C>T XP_011514758.1:p.Ser1734Leu
XM_017012480.1:c.5249C>T XP_016867969.1:p.Ser1750Leu
XM_017012481.1:c.5246C>T XP_016867970.1:p.Ser1749Leu
XM_017012482.1:c.5249C>T XP_016867971.1:p.Ser1750Leu
XM_017012483.1:c.5249C>T XP_016867972.1:p.Ser1750Leu
XM_017012484.1:c.5216C>T XP_016867973.1:p.Ser1739Leu
XM_017012485.1:c.5198C>T XP_016867974.1:p.Ser1733Leu
XM_017012486.1:c.5249C>T XP_016867975.1:p.Ser1750Leu
XM_017012487.1:c.5102C>T XP_016867976.1:p.Ser1701Leu
XM_017012488.1:c.5134-447C>T XP_016867977.1:n.5134-447C>T
XM_017012489.1:c.1919C>T XP_016867978.1:p.Ser640Leu
XM_017012490.2:c.1523C>T XP_016867979.1:p.Ser508Leu
XM_024446852.1:c.5246C>T XP_024302620.1:p.Ser1749Leu
XM_024446853.1:c.5249C>T XP_024302621.1:p.Ser1750Leu
XR_428183.2:n.5457C>T
XR_428183.3:n.5481C>T