Canonical Allele Identifier: CA412737625
Community Standard Title: NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38290990G>C , CM000685.2:g.38290990G>C GRCh38
NC_000023.10:g.38150243G>C , CM000685.1:g.38150243G>C GRCh37
NC_000023.9:g.38035187G>C NCBI36
NG_009553.1:g.41546C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001034853.2:c.1541C>G MANE Select NP_001030025.1:p.Ser514Ter
ENST00000645032.1:c.1541C>G MANE Select ENSP00000495537.1:p.Ser514Ter
NM_000328.2:c.1541C>G NP_000319.1:p.Ser514Ter
NM_000328.3:c.1541C>G NP_000319.1:p.Ser514Ter
NM_001034853.1:c.1541C>G NP_001030025.1:p.Ser514Ter
NM_001367245.1:c.1538C>G NP_001354174.1:p.Ser513Ter
NM_001367246.1:c.1355C>G NP_001354175.1:p.Ser452Ter
NM_001367247.1:c.1541C>G NP_001354176.1:p.Ser514Ter
NM_001367248.1:c.1571C>G NP_001354177.1:p.Ser524Ter
NM_001367249.1:c.1538C>G NP_001354178.1:p.Ser513Ter
NM_001367250.1:c.1538C>G NP_001354179.1:p.Ser513Ter
NM_001367251.1:c.1355C>G NP_001354180.1:p.Ser452Ter
NR_159803.1:n.1903C>G
NR_159804.1:n.1617C>G
NR_159805.1:n.1683C>G
NR_159806.1:n.1683C>G
NR_159807.1:n.1591C>G
NR_159808.1:n.1795C>G
ENST00000318842.11:c.1541C>G ENSP00000322219.6:p.Ser514Ter
ENST00000339363.7:c.1541C>G ENSP00000343671.3:p.Ser514Ter
ENST00000378505.6:c.1541C>G ENSP00000367766.2:p.Ser514Ter
ENST00000465127.1:c.172-375131G>C ENSP00000417050.1:n.172-375131G>C
ENST00000474584.5:c.*6C>G ENSP00000418926.1:n.*6C>G
ENST00000482855.5:c.1541C>G ENSP00000419276.1:p.Ser514Ter
ENST00000494707.5:c.108C>G
ENST00000494707.6:c.745C>G
ENST00000642170.1:n.1795C>G
ENST00000642395.2:c.1541C>G ENSP00000493468.2:p.Ser514Ter
ENST00000642739.1:c.1541C>G ENSP00000493596.1:p.Ser514Ter
ENST00000644238.1:c.1355C>G ENSP00000496728.1:p.Ser452Ter
ENST00000644337.1:c.1355C>G ENSP00000494557.1:p.Ser452Ter
ENST00000645124.1:c.1541C>G ENSP00000496446.1:p.Ser514Ter
ENST00000646020.1:c.*234C>G ENSP00000494745.1:n.*234C>G
XM_005272633.1:c.1541C>G XP_005272690.1:p.Ser514Ter
XM_005272633.3:c.1541C>G XP_005272690.1:p.Ser514Ter
XM_011543940.1:c.1538C>G XP_011542242.1:p.Ser513Ter
XM_011543940.3:c.1538C>G XP_011542242.1:p.Ser513Ter
XM_017029712.2:c.1538C>G XP_016885201.1:p.Ser513Ter