Canonical Allele Identifier: CA395921259
Community Standard Title: NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn)
Gene: RPGRIP1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53605535C>T , CM000678.2:g.53605535C>T GRCh38
NC_000016.9:g.53639447C>T , CM000678.1:g.53639447C>T GRCh37
NC_000016.8:g.52196948C>T NCBI36
NG_008991.2:g.103325G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015272.5:c.3781G>A MANE Select NP_056087.2:p.Asp1261Asn
ENST00000647211.2:c.3781G>A MANE Select ENSP00000493946.1:p.Asp1261Asn
NM_001127897.1:c.3541G>A NP_001121369.1:p.Asp1181Asn
NM_001127897.2:c.3541G>A NP_001121369.1:p.Asp1181Asn
NM_001127897.3:c.3541G>A NP_001121369.1:p.Asp1181Asn
NM_001127897.4:c.3541G>A NP_001121369.1:p.Asp1181Asn
NM_001308334.1:c.3643G>A NP_001295263.1:p.Asp1215Asn
NM_001308334.2:c.3643G>A NP_001295263.1:p.Asp1215Asn
NM_001308334.3:c.3643G>A NP_001295263.1:p.Asp1215Asn
NM_001330538.1:c.3679G>A NP_001317467.1:p.Asp1227Asn
NM_001330538.2:c.3679G>A NP_001317467.1:p.Asp1227Asn
NM_015272.2:c.3781G>A NP_056087.2:p.Asp1261Asn
NM_015272.3:c.3781G>A NP_056087.2:p.Asp1261Asn
NM_015272.4:c.3781G>A NP_056087.2:p.Asp1261Asn
ENST00000262135.8:c.3541G>A ENSP00000262135.4:p.Asp1181Asn
ENST00000262135.9:c.3541G>A ENSP00000262135.4:p.Asp1181Asn
ENST00000379925.7:c.3781G>A ENSP00000369257.3:p.Asp1261Asn
ENST00000563746.5:c.3679G>A ENSP00000457889.1:p.Asp1227Asn
ENST00000564374.5:c.3643G>A ENSP00000456534.1:p.Asp1215Asn
ENST00000565343.2:n.4205G>A
ENST00000621565.4:c.3643G>A ENSP00000480698.1:p.Asp1215Asn
ENST00000621565.5:c.3643G>A ENSP00000480698.1:p.Asp1215Asn
ENST00000680193.1:c.*541G>A ENSP00000506379.1:n.*541G>A
ENST00000681587.1:n.1553G>A
XM_005255867.1:c.3679G>A XP_005255924.1:p.Asp1227Asn
XM_005255868.1:c.3655G>A XP_005255925.1:p.Asp1219Asn
XM_005255868.2:c.3655G>A XP_005255925.1:p.Asp1219Asn
XM_005255871.2:c.1888G>A XP_005255928.1:p.Asp630Asn
XM_011522968.1:c.3781G>A XP_011521270.1:p.Asp1261Asn
XM_011522974.1:c.1888G>A XP_011521276.1:p.Asp630Asn
XM_017023094.2:c.3793G>A XP_016878583.1:p.Asp1265Asn
XM_017023095.2:c.3553G>A XP_016878584.1:p.Asp1185Asn
XM_017023098.1:c.2026G>A XP_016878587.1:p.Asp676Asn
XM_017023099.1:c.2026G>A XP_016878588.1:p.Asp676Asn