Canonical Allele Identifier: CA4578800
Community Standard Title: NM_170606.3(KMT2C):c.12443C>T (p.Pro4148Leu)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152152788G>A , CM000669.2:g.152152788G>A GRCh38
NC_000007.13:g.151849873G>A , CM000669.1:g.151849873G>A GRCh37
NC_000007.12:g.151480806G>A NCBI36
NG_033948.1:g.288218C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.12443C>T MANE Select NP_733751.2:p.Pro4148Leu
ENST00000262189.11:c.12443C>T MANE Select ENSP00000262189.6:p.Pro4148Leu
NM_170606.2:c.12443C>T NP_733751.2:p.Pro4148Leu
ENST00000262189.10:c.12443C>T ENSP00000262189.6:p.Pro4148Leu
ENST00000355193.6:c.12443C>T ENSP00000347325.3:p.Pro4148Leu
ENST00000360104.7:c.5124C>T
ENST00000360104.8:c.8230C>T
ENST00000418061.2:c.3085C>T
ENST00000424877.5:c.2294C>T ENSP00000410411.1:p.Pro765Leu
ENST00000424877.6:c.3019C>T
ENST00000473186.5:n.10325C>T
ENST00000485241.2:n.580C>T
ENST00000558084.5:c.*9963C>T ENSP00000453752.1:n.*9963C>T
ENST00000679393.1:n.7154C>T
ENST00000679560.1:c.7343C>T ENSP00000505094.1:p.Pro2448Leu
ENST00000679882.1:c.12008C>T ENSP00000506154.1:p.Pro4003Leu
ENST00000680029.1:c.3020C>T
ENST00000680877.1:c.7343C>T ENSP00000505724.1:p.Pro2448Leu
ENST00000681923.1:n.1458C>T
ENST00000682040.1:c.631C>T
ENST00000682283.1:c.12614C>T ENSP00000507485.1:p.Pro4205Leu
ENST00000682629.1:n.186C>T
ENST00000683120.1:n.7635C>T
ENST00000683178.1:c.3016C>T
ENST00000683200.1:c.9953C>T ENSP00000508052.1:p.Pro3318Leu
ENST00000683337.1:n.4073C>T
ENST00000683502.1:c.3088C>T
ENST00000683640.1:n.36C>T
ENST00000683886.1:n.2201C>T
ENST00000684069.1:c.860C>T ENSP00000507650.1:p.Pro287Leu
ENST00000684261.1:c.7340C>T ENSP00000508097.1:p.Pro2447Leu
ENST00000684330.1:n.3401C>T
ENST00000684649.1:c.3088C>T
XM_005250025.3:c.12659C>T XP_005250082.1:p.Pro4220Leu
XM_005250025.4:c.12659C>T XP_005250082.1:p.Pro4220Leu
XM_005250026.2:c.12656C>T XP_005250083.1:p.Pro4219Leu
XM_005250026.3:c.12656C>T XP_005250083.1:p.Pro4219Leu
XM_005250027.3:c.12656C>T XP_005250084.1:p.Pro4219Leu
XM_005250027.4:c.12656C>T XP_005250084.1:p.Pro4219Leu
XM_005250028.3:c.12659C>T XP_005250085.1:p.Pro4220Leu
XM_005250028.4:c.12659C>T XP_005250085.1:p.Pro4220Leu
XM_005250031.3:c.12494C>T XP_005250088.1:p.Pro4165Leu
XM_005250031.4:c.12494C>T XP_005250088.1:p.Pro4165Leu
XM_006716077.2:c.12656C>T XP_006716140.1:p.Pro4219Leu
XM_006716077.3:c.12656C>T XP_006716140.1:p.Pro4219Leu
XM_006716078.2:c.12587C>T XP_006716141.1:p.Pro4196Leu
XM_006716078.3:c.12587C>T XP_006716141.1:p.Pro4196Leu
XM_006716079.2:c.12491C>T XP_006716142.1:p.Pro4164Leu
XM_006716079.3:c.12491C>T XP_006716142.1:p.Pro4164Leu
XM_011516450.1:c.12611C>T XP_011514752.1:p.Pro4204Leu
XM_011516450.2:c.12611C>T XP_011514752.1:p.Pro4204Leu
XM_011516451.1:c.12539C>T XP_011514753.1:p.Pro4180Leu
XM_011516451.2:c.12539C>T XP_011514753.1:p.Pro4180Leu
XM_011516452.1:c.12506C>T XP_011514754.1:p.Pro4169Leu
XM_011516452.2:c.12506C>T XP_011514754.1:p.Pro4169Leu
XM_011516453.1:c.12422C>T XP_011514755.1:p.Pro4141Leu
XM_011516453.2:c.12422C>T XP_011514755.1:p.Pro4141Leu
XM_011516454.1:c.11744C>T XP_011514756.1:p.Pro3915Leu
XM_011516454.2:c.11744C>T XP_011514756.1:p.Pro3915Leu
XM_011516455.1:c.10205C>T XP_011514757.1:p.Pro3402Leu
XM_011516456.1:c.12611C>T XP_011514758.1:p.Pro4204Leu
XM_011516456.2:c.12611C>T XP_011514758.1:p.Pro4204Leu
XM_017012480.1:c.12659C>T XP_016867969.1:p.Pro4220Leu
XM_017012481.1:c.12656C>T XP_016867970.1:p.Pro4219Leu
XM_017012482.1:c.12656C>T XP_016867971.1:p.Pro4219Leu
XM_017012483.1:c.12656C>T XP_016867972.1:p.Pro4219Leu
XM_017012484.1:c.12626C>T XP_016867973.1:p.Pro4209Leu
XM_017012485.1:c.12608C>T XP_016867974.1:p.Pro4203Leu
XM_017012486.1:c.12584C>T XP_016867975.1:p.Pro4195Leu
XM_017012487.1:c.12512C>T XP_016867976.1:p.Pro4171Leu
XM_017012488.1:c.12476C>T XP_016867977.1:p.Pro4159Leu
XM_017012489.1:c.9329C>T XP_016867978.1:p.Pro3110Leu
XM_017012490.2:c.8933C>T XP_016867979.1:p.Pro2978Leu
XM_024446852.1:c.12656C>T XP_024302620.1:p.Pro4219Leu
XM_024446853.1:c.12584C>T XP_024302621.1:p.Pro4195Leu