Canonical Allele Identifier: CA363033520
Community Standard Title: NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)
Gene: GABBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29612578C>T , CM000668.2:g.29612578C>T GRCh38
NC_000006.11:g.29580355C>T , CM000668.1:g.29580355C>T GRCh37
NC_000006.10:g.29688334C>T NCBI36
NG_029101.1:g.25608G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001470.4:c.1603G>A MANE Select NP_001461.1:p.Ala535Thr
ENST00000377034.9:c.1603G>A MANE Select ENSP00000366233.4:p.Ala535Thr
NM_001319053.1:c.1072G>A NP_001305982.1:p.Ala358Thr
NM_001319053.2:c.1072G>A NP_001305982.1:p.Ala358Thr
NM_001470.2:c.1603G>A NP_001461.1:p.Ala535Thr
NM_001470.3:c.1603G>A NP_001461.1:p.Ala535Thr
NM_021903.2:c.1252G>A NP_068703.1:p.Ala418Thr
NM_021903.3:c.1252G>A NP_068703.1:p.Ala418Thr
NM_021904.2:c.1417G>A NP_068704.2:p.Ala473Thr
NM_021904.3:c.1417G>A NP_068704.2:p.Ala473Thr
NM_021904.4:c.1417G>A NP_068704.2:p.Ala473Thr
ENST00000355973.7:c.1252G>A ENSP00000348248.3:p.Ala418Thr
ENST00000376977.7:c.1603G>A ENSP00000366176.3:p.Ala535Thr
ENST00000377012.8:c.1252G>A ENSP00000366211.4:p.Ala418Thr
ENST00000377012.9:c.1252G>A ENSP00000366211.4:p.Ala418Thr
ENST00000377016.8:c.1417G>A ENSP00000366215.4:p.Ala473Thr
ENST00000377034.8:c.1603G>A ENSP00000366233.4:p.Ala535Thr
ENST00000462632.6:c.1603G>A ENSP00000419755.2:p.Ala535Thr
ENST00000472823.5:c.*1161G>A ENSP00000419356.1:n.*1161G>A
ENST00000476670.3:c.1618G>A ENSP00000417332.2:p.Ala540Thr
ENST00000489839.1:n.22G>A
ENST00000491829.5:c.*1125G>A ENSP00000417478.1:n.*1125G>A
ENST00000494877.5:c.1603G>A ENSP00000419061.1:p.Ala535Thr
ENST00000706533.1:c.1603G>A ENSP00000516435.1:p.Ala535Thr
XM_005248982.2:c.1618G>A XP_005249039.1:p.Ala540Thr
XM_006715047.2:c.1432G>A XP_006715110.1:p.Ala478Thr
XM_006715047.4:c.1432G>A XP_006715110.1:p.Ala478Thr
XM_011514453.1:c.1411G>A XP_011512755.1:p.Ala471Thr
XM_011514453.3:c.1411G>A XP_011512755.1:p.Ala471Thr
XM_011514454.1:c.1072G>A XP_011512756.1:p.Ala358Thr
XM_011514455.1:c.1618G>A XP_011512757.1:p.Ala540Thr
XM_011514456.1:c.1618G>A XP_011512758.1:p.Ala540Thr
XM_024446392.1:c.1054G>A XP_024302160.1:p.Ala352Thr
XR_001743302.1:n.1704G>A
XR_001743303.1:n.1704G>A
XR_241884.1:n.1704G>A