Canonical Allele Identifier: CA352156

Gene: RAPGEF1

Linked Data

• ClinVar Variation Id: 222969
• ClinVar RCV Id: RCV000208572 ; RCV001093195
• dbSNP Id: rs869025251
• MyVariant Identifiers: chr9:g.134497376T>C (hg19) ; chr9:g.131621989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131621989T>C , CM000671.2:g.131621989T>C	GRCh38
NC_000009.11:g.134497376T>C , CM000671.1:g.134497376T>C	GRCh37
NC_000009.10:g.133487197T>C	NCBI36
NG_050622.1:g.122956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372190.8:c.1715A>G	ENSP00000361264.3:p.Tyr572Cys
ENST00000419442.2:n.730A>G
ENST00000683357.1:c.1712A>G MANE Select	ENSP00000508246.1:p.Tyr571Cys
ENST00000372189.7:c.1661A>G	ENSP00000361263.2:p.Tyr554Cys
ENST00000372190.7:c.1715A>G	ENSP00000361264.3:p.Tyr572Cys
ENST00000372195.5:c.1712A>G	ENSP00000361269.1:p.Tyr571Cys
ENST00000419442.1:c.37A>G
NM_001304275.1:c.1712A>G	NP_001291204.1:p.Tyr571Cys
NM_005312.3:c.1661A>G	NP_005303.2:p.Tyr554Cys
NM_198679.1:c.1715A>G	NP_941372.1:p.Tyr572Cys
XM_005272186.3:c.1712A>G	XP_005272243.1:p.Tyr571Cys
XM_005272191.2:c.1598A>G	XP_005272248.1:p.Tyr533Cys
XM_006717067.2:c.1730A>G	XP_006717130.1:p.Tyr577Cys
XM_006717072.2:c.1616A>G	XP_006717135.1:p.Tyr539Cys
XM_006717074.2:c.1730A>G	XP_006717137.1:p.Tyr577Cys
XM_011518569.1:c.1754A>G	XP_011516871.1:p.Tyr585Cys
XM_011518570.1:c.1754A>G	XP_011516872.1:p.Tyr585Cys
XM_011518571.1:c.1739A>G	XP_011516873.1:p.Tyr580Cys
XM_011518572.1:c.1736A>G	XP_011516874.1:p.Tyr579Cys
XM_011518573.1:c.1685A>G	XP_011516875.1:p.Tyr562Cys
XM_011518574.1:c.1754A>G	XP_011516876.1:p.Tyr585Cys
XM_011518575.1:c.1754A>G	XP_011516877.1:p.Tyr585Cys
XM_011518576.1:c.1754A>G	XP_011516878.1:p.Tyr585Cys
XM_011518577.1:c.1754A>G	XP_011516879.1:p.Tyr585Cys
XM_011518578.1:c.1754A>G	XP_011516880.1:p.Tyr585Cys
XM_011518579.1:c.1754A>G	XP_011516881.1:p.Tyr585Cys
XM_011518580.1:c.1754A>G	XP_011516882.1:p.Tyr585Cys
XM_011518581.1:c.1754A>G	XP_011516883.1:p.Tyr585Cys
XM_011518582.1:c.1754A>G	XP_011516884.1:p.Tyr585Cys
XR_929778.1:n.1926A>G
XM_005272186.4:c.1712A>G	XP_005272243.1:p.Tyr571Cys
XM_005272191.3:c.1598A>G	XP_005272248.1:p.Tyr533Cys
XM_006717067.3:c.1730A>G	XP_006717130.1:p.Tyr577Cys
XM_006717072.3:c.1616A>G	XP_006717135.1:p.Tyr539Cys
XM_006717074.3:c.1730A>G	XP_006717137.1:p.Tyr577Cys
XM_011518569.3:c.1754A>G	XP_011516871.1:p.Tyr585Cys
XM_011518570.3:c.1754A>G	XP_011516872.1:p.Tyr585Cys
XM_011518571.2:c.1739A>G	XP_011516873.1:p.Tyr580Cys
XM_011518572.2:c.1736A>G	XP_011516874.1:p.Tyr579Cys
XM_011518573.3:c.1685A>G	XP_011516875.1:p.Tyr562Cys
XM_011518574.3:c.1754A>G	XP_011516876.1:p.Tyr585Cys
XM_011518575.3:c.1754A>G	XP_011516877.1:p.Tyr585Cys
XM_011518576.3:c.1754A>G	XP_011516878.1:p.Tyr585Cys
XM_011518577.3:c.1754A>G	XP_011516879.1:p.Tyr585Cys
XM_011518578.3:c.1754A>G	XP_011516880.1:p.Tyr585Cys
XM_011518579.3:c.1754A>G	XP_011516881.1:p.Tyr585Cys
XM_011518580.3:c.1754A>G	XP_011516882.1:p.Tyr585Cys
XM_011518581.3:c.1754A>G	XP_011516883.1:p.Tyr585Cys
XM_011518582.3:c.1754A>G	XP_011516884.1:p.Tyr585Cys
XM_017014633.1:c.1661A>G	XP_016870122.1:p.Tyr554Cys
XM_017014634.1:c.1643A>G	XP_016870123.1:p.Tyr548Cys
XM_017014635.2:c.1643A>G	XP_016870124.1:p.Tyr548Cys
XM_017014636.2:c.1619A>G	XP_016870125.1:p.Tyr540Cys
XM_017014637.2:c.1754A>G	XP_016870126.1:p.Tyr585Cys
XM_017014638.2:c.1754A>G	XP_016870127.1:p.Tyr585Cys
XM_017014639.2:c.1754A>G	XP_016870128.1:p.Tyr585Cys
XM_017014640.2:c.1754A>G	XP_016870129.1:p.Tyr585Cys
XM_017014641.2:c.1754A>G	XP_016870130.1:p.Tyr585Cys
XM_024447521.1:c.1616A>G	XP_024303289.1:p.Tyr539Cys
XR_001746282.2:n.1930A>G
NM_001304275.2:c.1712A>G	NP_001291204.1:p.Tyr571Cys
NM_001377935.1:c.1712A>G MANE Select	NP_001364864.1:p.Tyr571Cys
NM_001377936.1:c.1565A>G	NP_001364865.1:p.Tyr522Cys
NM_001377937.1:c.1598A>G	NP_001364866.1:p.Tyr533Cys
NM_001377938.1:c.1598A>G	NP_001364867.1:p.Tyr533Cys
NM_005312.4:c.1661A>G	NP_005303.2:p.Tyr554Cys
NM_198679.2:c.1715A>G	NP_941372.1:p.Tyr572Cys