Canonical Allele Identifier: CA16620212
Community Standard Title: NM_015272.5(RPGRIP1L):c.3713C>T (p.Thr1238Ile)
Gene: RPGRIP1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53605603G>A , CM000678.2:g.53605603G>A GRCh38
NC_000016.9:g.53639515G>A , CM000678.1:g.53639515G>A GRCh37
NC_000016.8:g.52197016G>A NCBI36
NG_008991.2:g.103257C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015272.5:c.3713C>T MANE Select NP_056087.2:p.Thr1238Ile
ENST00000647211.2:c.3713C>T MANE Select ENSP00000493946.1:p.Thr1238Ile
NM_001127897.1:c.3473C>T NP_001121369.1:p.Thr1158Ile
NM_001127897.2:c.3473C>T NP_001121369.1:p.Thr1158Ile
NM_001127897.3:c.3473C>T NP_001121369.1:p.Thr1158Ile
NM_001127897.4:c.3473C>T NP_001121369.1:p.Thr1158Ile
NM_001308334.1:c.3575C>T NP_001295263.1:p.Thr1192Ile
NM_001308334.2:c.3575C>T NP_001295263.1:p.Thr1192Ile
NM_001308334.3:c.3575C>T NP_001295263.1:p.Thr1192Ile
NM_001330538.1:c.3611C>T NP_001317467.1:p.Thr1204Ile
NM_001330538.2:c.3611C>T NP_001317467.1:p.Thr1204Ile
NM_015272.2:c.3713C>T NP_056087.2:p.Thr1238Ile
NM_015272.3:c.3713C>T NP_056087.2:p.Thr1238Ile
NM_015272.4:c.3713C>T NP_056087.2:p.Thr1238Ile
ENST00000262135.8:c.3473C>T ENSP00000262135.4:p.Thr1158Ile
ENST00000262135.9:c.3473C>T ENSP00000262135.4:p.Thr1158Ile
ENST00000379925.7:c.3713C>T ENSP00000369257.3:p.Thr1238Ile
ENST00000563746.5:c.3611C>T ENSP00000457889.1:p.Thr1204Ile
ENST00000564374.5:c.3575C>T ENSP00000456534.1:p.Thr1192Ile
ENST00000565343.2:n.4137C>T
ENST00000621565.4:c.3575C>T ENSP00000480698.1:p.Thr1192Ile
ENST00000621565.5:c.3575C>T ENSP00000480698.1:p.Thr1192Ile
ENST00000680193.1:c.*473C>T ENSP00000506379.1:n.*473C>T
ENST00000681587.1:n.1485C>T
XM_005255867.1:c.3611C>T XP_005255924.1:p.Thr1204Ile
XM_005255868.1:c.3587C>T XP_005255925.1:p.Thr1196Ile
XM_005255868.2:c.3587C>T XP_005255925.1:p.Thr1196Ile
XM_005255871.2:c.1820C>T XP_005255928.1:p.Thr607Ile
XM_011522968.1:c.3713C>T XP_011521270.1:p.Thr1238Ile
XM_011522974.1:c.1820C>T XP_011521276.1:p.Thr607Ile
XM_017023094.2:c.3725C>T XP_016878583.1:p.Thr1242Ile
XM_017023095.2:c.3485C>T XP_016878584.1:p.Thr1162Ile
XM_017023098.1:c.1958C>T XP_016878587.1:p.Thr653Ile
XM_017023099.1:c.1958C>T XP_016878588.1:p.Thr653Ile