Canonical Allele Identifier: CA384705038
Community Standard Title: NM_003482.4(KMT2D):c.13316C>T (p.Pro4439Leu)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031389G>A , CM000674.2:g.49031389G>A GRCh38
NC_000012.11:g.49425172G>A , CM000674.1:g.49425172G>A GRCh37
NC_000012.10:g.47711439G>A NCBI36
NG_027827.1:g.28936C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13316C>T MANE Select NP_003473.3:p.Pro4439Leu
ENST00000301067.12:c.13316C>T MANE Select ENSP00000301067.7:p.Pro4439Leu
NM_003482.3:c.13316C>T NP_003473.3:p.Pro4439Leu
ENST00000301067.11:c.13316C>T ENSP00000301067.7:p.Pro4439Leu
ENST00000552391.1:n.16C>T
ENST00000552391.2:n.16C>T
ENST00000683543.2:c.13316C>T ENSP00000506726.1:p.Pro4439Leu
ENST00000685166.1:c.13325C>T ENSP00000509386.1:p.Pro4442Leu
ENST00000685554.1:c.1753-77C>T ENSP00000508640.1:n.1753-77C>T
ENST00000692637.1:c.13313C>T ENSP00000509666.1:p.Pro4438Leu
ENST00000692841.1:c.4795C>T ENSP00000508711.1:n.4795C>T
XM_005269162.3:c.13316C>T XP_005269219.1:p.Pro4439Leu
XM_005269162.4:c.13316C>T XP_005269219.1:p.Pro4439Leu
XM_006719614.2:c.13325C>T XP_006719677.1:p.Pro4442Leu
XM_006719614.4:c.13325C>T XP_006719677.1:p.Pro4442Leu
XM_006719616.2:c.13313C>T XP_006719679.1:p.Pro4438Leu
XM_006719616.3:c.13313C>T XP_006719679.1:p.Pro4438Leu
XM_011538770.1:c.13325C>T XP_011537072.1:p.Pro4442Leu
XM_011538770.2:c.13325C>T XP_011537072.1:p.Pro4442Leu
XM_011538771.1:c.13322C>T XP_011537073.1:p.Pro4441Leu
XM_011538771.2:c.13322C>T XP_011537073.1:p.Pro4441Leu
XM_011538772.1:c.13316C>T XP_011537074.1:p.Pro4439Leu
XM_011538772.2:c.13316C>T XP_011537074.1:p.Pro4439Leu
XM_011538773.1:c.13313C>T XP_011537075.1:p.Pro4438Leu
XM_011538773.2:c.13313C>T XP_011537075.1:p.Pro4438Leu
XM_011538774.1:c.13304C>T XP_011537076.1:p.Pro4435Leu
XM_011538774.2:c.13304C>T XP_011537076.1:p.Pro4435Leu
XM_011538775.1:c.13325C>T XP_011537077.1:p.Pro4442Leu
XM_011538776.1:c.13232C>T XP_011537078.1:p.Pro4411Leu
XM_011538776.2:c.13232C>T XP_011537078.1:p.Pro4411Leu
XR_001748874.1:n.14634C>T
XR_944740.1:n.15645C>T