Canonical Allele Identifier: CA2199751
Community Standard Title: NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu)
Gene: HDAC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.239115264G>A , CM000664.2:g.239115264G>A GRCh38
NC_000002.11:g.240036960G>A , CM000664.1:g.240036960G>A GRCh37
NC_000002.10:g.239701897G>A NCBI36
NG_009235.1:g.290684C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378414.1:c.1580C>T MANE Select NP_001365343.1:p.Pro527Leu
ENST00000543185.6:c.1580C>T MANE Select ENSP00000440481.3:p.Pro527Leu
NM_001378415.1:c.1580C>T NP_001365344.1:p.Pro527Leu
NM_001378416.1:c.1565C>T NP_001365345.1:p.Pro522Leu
NM_001378417.1:c.1565C>T NP_001365346.1:p.Pro522Leu
NM_006037.3:c.1565C>T NP_006028.2:p.Pro522Leu
NM_006037.4:c.1565C>T NP_006028.2:p.Pro522Leu
ENST00000345617.7:c.1565C>T ENSP00000264606.3:p.Pro522Leu
ENST00000463007.5:n.2017C>T
ENST00000493582.5:n.2052C>T
ENST00000535493.5:n.1923C>T
ENST00000543185.5:c.1229C>T ENSP00000440481.2:p.Pro410Leu
XM_006712877.2:c.1637C>T XP_006712940.1:p.Pro546Leu
XM_006712877.3:c.1637C>T XP_006712940.1:p.Pro546Leu
XM_006712878.2:c.1580C>T XP_006712941.1:p.Pro527Leu
XM_006712878.3:c.1580C>T XP_006712941.1:p.Pro527Leu
XM_006712879.2:c.1499C>T XP_006712942.1:p.Pro500Leu
XM_006712879.3:c.1499C>T XP_006712942.1:p.Pro500Leu
XM_006712880.2:c.1499C>T XP_006712943.1:p.Pro500Leu
XM_006712880.3:c.1499C>T XP_006712943.1:p.Pro500Leu
XM_011512217.1:c.1652C>T XP_011510519.1:p.Pro551Leu
XM_011512217.2:c.1652C>T XP_011510519.1:p.Pro551Leu
XM_011512218.1:c.1652C>T XP_011510520.1:p.Pro551Leu
XM_011512218.2:c.1652C>T XP_011510520.1:p.Pro551Leu
XM_011512219.1:c.1637C>T XP_011510521.1:p.Pro546Leu
XM_011512219.2:c.1637C>T XP_011510521.1:p.Pro546Leu
XM_011512220.1:c.1583C>T XP_011510522.1:p.Pro528Leu
XM_011512220.2:c.1583C>T XP_011510522.1:p.Pro528Leu
XM_011512221.1:c.1580C>T XP_011510523.1:p.Pro527Leu
XM_011512222.1:c.1580C>T XP_011510524.1:p.Pro527Leu
XM_011512222.3:c.1580C>T XP_011510524.1:p.Pro527Leu
XM_011512223.1:c.1580C>T XP_011510525.1:p.Pro527Leu
XM_011512223.2:c.1580C>T XP_011510525.1:p.Pro527Leu
XM_011512224.1:c.1565C>T XP_011510526.1:p.Pro522Leu
XM_011512224.2:c.1565C>T XP_011510526.1:p.Pro522Leu
XM_011512225.1:c.1550C>T XP_011510527.1:p.Pro517Leu
XM_011512225.2:c.1550C>T XP_011510527.1:p.Pro517Leu
XM_011512226.1:c.1508C>T XP_011510528.1:p.Pro503Leu
XM_011512226.2:c.1508C>T XP_011510528.1:p.Pro503Leu
XM_011512227.1:c.1436C>T XP_011510529.1:p.Pro479Leu
XM_011512227.2:c.1436C>T XP_011510529.1:p.Pro479Leu
XM_011512228.1:c.1499C>T XP_011510530.1:p.Pro500Leu
XM_011512229.1:c.1499C>T XP_011510531.1:p.Pro500Leu
XM_011512230.1:c.332C>T XP_011510532.1:p.Pro111Leu
XM_017005394.1:c.1520C>T XP_016860883.1:p.Pro507Leu
XM_017005395.1:c.1064C>T XP_016860884.1:p.Pro355Leu
XM_024453257.1:c.1499C>T XP_024309025.1:p.Pro500Leu