Canonical Allele Identifier: CA6568570
Community Standard Title: NM_014764.4(DAZAP2):c.398C>T (p.Pro133Leu)
Gene: DAZAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51242349C>T , CM000674.2:g.51242349C>T GRCh38
NC_000012.11:g.51636133C>T , CM000674.1:g.51636133C>T GRCh37
NC_000012.10:g.49922400C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014764.4:c.398C>T MANE Select NP_055579.1:p.Pro133Leu
ENST00000412716.8:c.398C>T MANE Select ENSP00000394699.2:p.Pro133Leu
NM_001136264.1:c.332C>T NP_001129736.1:p.Pro111Leu
NM_001136264.2:c.332C>T NP_001129736.1:p.Pro111Leu
NM_001136266.1:c.321C>T NP_001129738.1:p.Pro107=
NM_001136266.2:c.321C>T NP_001129738.1:p.Pro107=
NM_001136267.1:c.302C>T NP_001129739.1:p.Pro101Leu
NM_001136267.2:c.302C>T NP_001129739.1:p.Pro101Leu
NM_001136268.1:c.152C>T NP_001129740.1:p.Pro51Leu
NM_001136268.2:c.152C>T NP_001129740.1:p.Pro51Leu
NM_001136269.1:c.378+1233C>T NP_001129741.1:n.378+1233C>T
NM_001136269.2:c.378+1233C>T NP_001129741.1:n.378+1233C>T
NM_014764.3:c.398C>T NP_055579.1:p.Pro133Leu
ENST00000412716.7:c.398C>T ENSP00000394699.2:p.Pro133Leu
ENST00000425012.6:c.378+1233C>T ENSP00000408251.2:n.378+1233C>T
ENST00000436900.2:c.*148C>T ENSP00000404968.2:n.*148C>T
ENST00000439799.6:c.152C>T ENSP00000398804.2:p.Pro51Leu
ENST00000449723.7:c.332C>T ENSP00000412812.2:p.Pro111Leu
ENST00000549497.5:n.465C>T
ENST00000549555.5:c.321C>T ENSP00000448051.1:p.Pro107=
ENST00000549732.6:c.302C>T ENSP00000446554.2:p.Pro101Leu
ENST00000551313.1:c.218C>T ENSP00000447842.1:p.Pro73Leu
ENST00000551534.5:n.489C>T
ENST00000551919.5:n.360C>T
ENST00000552459.2:n.2229C>T
ENST00000604900.5:c.378+1233C>T ENSP00000474597.1:n.378+1233C>T