Canonical Allele Identifier: CA4024014
Community Standard Title: NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)
Gene: REPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.138912809C>T , CM000668.2:g.138912809C>T GRCh38
NC_000006.11:g.139233946C>T , CM000668.1:g.139233946C>T GRCh37
NC_000006.10:g.139275639C>T NCBI36
NG_034016.1:g.80453G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001286611.2:c.1927G>A MANE Select NP_001273540.1:p.Asp643Asn
ENST00000450536.7:c.1927G>A MANE Select ENSP00000392065.2:p.Asp643Asn
NM_001128617.2:c.1846G>A NP_001122089.1:p.Asp616Asn
NM_001128617.3:c.1846G>A NP_001122089.1:p.Asp616Asn
NM_001286611.1:c.1927G>A NP_001273540.1:p.Asp643Asn
NM_001286612.1:c.1654G>A NP_001273541.1:p.Asp552Asn
NM_001286612.2:c.1654G>A NP_001273541.1:p.Asp552Asn
NM_031922.4:c.1924G>A NP_114128.3:p.Asp642Asn
NM_031922.5:c.1924G>A NP_114128.3:p.Asp642Asn
ENST00000258062.9:c.1924G>A ENSP00000258062.5:p.Asp642Asn
ENST00000367663.8:c.1846G>A ENSP00000356635.4:p.Asp616Asn
ENST00000409812.6:c.1654G>A ENSP00000386699.2:p.Asp552Asn
ENST00000415951.6:c.1846G>A ENSP00000397941.2:p.Asp616Asn
ENST00000445570.5:c.*831G>A ENSP00000401729.1:n.*831G>A
ENST00000450536.6:c.1927G>A ENSP00000392065.2:p.Asp643Asn
ENST00000478483.6:c.63G>A
ENST00000483468.5:c.*4426G>A ENSP00000435392.1:n.*4426G>A
ENST00000484164.6:n.564G>A
ENST00000492787.6:n.633G>A
ENST00000529423.1:n.330G>A
ENST00000529597.5:c.1801G>A ENSP00000434251.1:p.Asp601Asn
ENST00000530370.1:n.29G>A
ENST00000626459.2:c.*912G>A ENSP00000487438.1:n.*912G>A
XM_005267177.2:c.1924G>A XP_005267234.1:p.Asp642Asn
XM_005267177.4:c.1924G>A XP_005267234.1:p.Asp642Asn
XM_005267178.3:c.1927G>A XP_005267235.1:p.Asp643Asn
XM_005267178.5:c.1927G>A XP_005267235.1:p.Asp643Asn
XM_005267179.2:c.1843G>A XP_005267236.1:p.Asp615Asn
XM_005267179.4:c.1843G>A XP_005267236.1:p.Asp615Asn
XM_006715587.2:c.1864G>A XP_006715650.1:p.Asp622Asn
XM_011536202.1:c.1792G>A XP_011534504.1:p.Asp598Asn
XM_011536202.2:c.1792G>A XP_011534504.1:p.Asp598Asn
XM_017011387.2:c.1921G>A XP_016866876.1:p.Asp641Asn
XM_017011388.2:c.1792G>A XP_016866877.1:p.Asp598Asn
XM_017011389.1:c.1711G>A XP_016866878.1:p.Asp571Asn
XR_942610.1:n.2454G>A