Canonical Allele Identifier: CA258878995

Gene: RALGAPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35688668T>C , CM000676.2:g.35688668T>C	GRCh38
NC_000014.8:g.36157874T>C , CM000676.1:g.36157874T>C	GRCh37
NC_000014.7:g.35227625T>C	NCBI36
NG_051667.1:g.125656A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001346249.2:c.3743A>G MANE Select	NP_001333178.1:p.Gln1248Arg
ENST00000680220.1:c.3743A>G MANE Select	ENSP00000506280.1:p.Gln1248Arg
NM_001283043.1:c.2435-128A>G	NP_001269972.1:n.2435-128A>G
NM_001283043.2:c.2435-128A>G	NP_001269972.1:n.2435-128A>G
NM_001283043.3:c.2435-128A>G	NP_001269972.1:n.2435-128A>G
NM_001283044.1:c.2575+1168A>G	NP_001269973.1:n.2575+1168A>G
NM_001283044.2:c.2575+1168A>G	NP_001269973.1:n.2575+1168A>G
NM_001283044.3:c.2575+1168A>G	NP_001269973.1:n.2575+1168A>G
NM_001330075.2:c.3602A>G	NP_001317004.1:p.Gln1201Arg
NM_001330075.3:c.3602A>G	NP_001317004.1:p.Gln1201Arg
NM_001346243.1:c.2434+1168A>G	NP_001333172.1:n.2434+1168A>G
NM_001346243.2:c.2434+1168A>G	NP_001333172.1:n.2434+1168A>G
NM_001346245.1:c.2575+1168A>G	NP_001333174.1:n.2575+1168A>G
NM_001346245.2:c.2575+1168A>G	NP_001333174.1:n.2575+1168A>G
NM_001346246.1:c.2434+1168A>G	NP_001333175.1:n.2434+1168A>G
NM_001346246.2:c.2434+1168A>G	NP_001333175.1:n.2434+1168A>G
NM_001346247.1:c.2575+1168A>G	NP_001333176.1:n.2575+1168A>G
NM_001346247.2:c.2575+1168A>G	NP_001333176.1:n.2575+1168A>G
NM_001346248.1:c.3602A>G	NP_001333177.1:p.Gln1201Arg
NM_001346248.2:c.3602A>G	NP_001333177.1:p.Gln1201Arg
NM_001346249.1:c.3743A>G	NP_001333178.1:p.Gln1248Arg
NM_014990.1:c.2434+1168A>G	NP_055805.1:n.2434+1168A>G
NM_014990.2:c.2434+1168A>G	NP_055805.1:n.2434+1168A>G
NM_014990.3:c.2434+1168A>G	NP_055805.1:n.2434+1168A>G
NM_194301.2:c.2434+1168A>G	NP_919277.2:n.2434+1168A>G
NM_194301.3:c.2434+1168A>G	NP_919277.2:n.2434+1168A>G
NM_194301.4:c.2434+1168A>G	NP_919277.2:n.2434+1168A>G
ENST00000307138.10:c.2434+1168A>G	ENSP00000302647.6:n.2434+1168A>G
ENST00000382366.7:c.2435-128A>G	ENSP00000371803.3:n.2435-128A>G
ENST00000389698.7:c.2434+1168A>G	ENSP00000374348.3:n.2434+1168A>G
ENST00000553892.2:c.2575+1168A>G	ENSP00000451877.1:n.2575+1168A>G
ENST00000554259.6:c.2575+1168A>G	ENSP00000451133.2:n.2575+1168A>G
ENST00000554652.5:n.2094+1168A>G
ENST00000556839.5:n.1180+1168A>G
ENST00000637992.1:c.3602A>G	ENSP00000490119.1:p.Gln1201Arg
XM_005267491.2:c.2575+1168A>G	XP_005267548.1:n.2575+1168A>G
XM_005267492.2:c.2575+1168A>G	XP_005267549.1:n.2575+1168A>G
XM_005267492.4:c.2575+1168A>G	XP_005267549.1:n.2575+1168A>G
XM_005267493.2:c.2434+1168A>G	XP_005267550.1:n.2434+1168A>G
XM_005267498.3:c.76-128A>G	XP_005267555.1:n.76-128A>G
XM_005267498.4:c.76-128A>G	XP_005267555.1:n.76-128A>G
XM_006720098.2:c.3743A>G	XP_006720161.1:p.Gln1248Arg
XM_006720098.3:c.3743A>G	XP_006720161.1:p.Gln1248Arg
XM_006720099.2:c.3743A>G	XP_006720162.1:p.Gln1248Arg
XM_006720099.3:c.3743A>G	XP_006720162.1:p.Gln1248Arg
XM_006720100.2:c.3602A>G	XP_006720163.1:p.Gln1201Arg
XM_006720100.4:c.3602A>G	XP_006720163.1:p.Gln1201Arg
XM_006720101.2:c.3743A>G	XP_006720164.1:p.Gln1248Arg
XM_006720101.3:c.3743A>G	XP_006720164.1:p.Gln1248Arg
XM_006720102.2:c.3743A>G	XP_006720165.1:p.Gln1248Arg
XM_006720103.2:c.2575+1168A>G	XP_006720166.1:n.2575+1168A>G
XM_006720104.2:c.3743A>G	XP_006720167.1:p.Gln1248Arg
XM_006720104.4:c.3743A>G	XP_006720167.1:p.Gln1248Arg
XM_011536615.1:c.3743A>G	XP_011534917.1:p.Gln1248Arg
XM_011536615.3:c.3743A>G	XP_011534917.1:p.Gln1248Arg
XM_011536616.1:c.3743A>G	XP_011534918.1:p.Gln1248Arg
XM_011536616.3:c.3743A>G	XP_011534918.1:p.Gln1248Arg
XM_011536617.1:c.695A>G	XP_011534919.1:p.Gln232Arg
XM_017021143.2:c.3743A>G	XP_016876632.1:p.Gln1248Arg
XM_017021146.1:c.1475A>G	XP_016876635.1:p.Gln492Arg
XM_017021147.1:c.307+1168A>G	XP_016876636.1:n.307+1168A>G
XM_024449523.1:c.695A>G	XP_024305291.1:p.Gln232Arg