Canonical Allele Identifier: CA8225256
Community Standard Title: NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88434984C>T , CM000678.2:g.88434984C>T GRCh38
NC_000016.9:g.88501392C>T , CM000678.1:g.88501392C>T GRCh37
NC_000016.8:g.87028893C>T NCBI36
NG_012236.2:g.12514C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.7514C>T MANE Select NP_001354553.1:p.Pro2505Leu
ENST00000565624.3:c.7514C>T MANE Select ENSP00000456500.2:p.Pro2505Leu
NM_001127464.2:c.7430C>T NP_001120936.2:p.Pro2477Leu
NM_001367624.1:c.7514C>T NP_001354553.1:p.Pro2505Leu
ENST00000437464.1:c.7430C>T ENSP00000402343.1:p.Pro2477Leu
ENST00000565624.1:c.7514C>T ENSP00000456500.1:p.Pro2505Leu
XM_011523386.1:c.7514C>T XP_011521688.1:p.Pro2505Leu
XM_011523387.1:c.7514C>T XP_011521689.1:p.Pro2505Leu
XM_011523388.1:c.7514C>T XP_011521690.1:p.Pro2505Leu
XM_017023784.1:c.7514C>T XP_016879273.1:p.Pro2505Leu
XM_017023785.1:c.7514C>T XP_016879274.1:p.Pro2505Leu