Canonical Allele Identifier: CA1881814744
Gene: RAPGEF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131603630A>C , CM000671.2:g.131603630A>C GRCh38
NC_000009.11:g.134479017A>C , CM000671.1:g.134479017A>C GRCh37
NC_000009.10:g.133468838A>C NCBI36
NG_050622.1:g.141315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372190.8:c.1909-1481T>G ENSP00000361264.3:n.1909-1481T>G
ENST00000419442.2:n.1340+1301T>G
ENST00000683357.1:c.2412+331T>G MANE Select ENSP00000508246.1:n.2412+331T>G
ENST00000372189.7:c.1855-1481T>G ENSP00000361263.2:n.1855-1481T>G
ENST00000372190.7:c.1909-1481T>G ENSP00000361264.3:n.1909-1481T>G
ENST00000372195.5:c.1906-1481T>G ENSP00000361269.1:n.1906-1481T>G
ENST00000414781.1:c.136+331T>G
ENST00000419442.1:c.647+1301T>G
NM_001304275.1:c.1906-1481T>G NP_001291204.1:n.1906-1481T>G
NM_005312.3:c.1855-1481T>G NP_005303.2:n.1855-1481T>G
NM_198679.1:c.1909-1481T>G NP_941372.1:n.1909-1481T>G
XM_005272186.3:c.2415+331T>G XP_005272243.1:n.2415+331T>G
XM_005272191.2:c.2301+331T>G XP_005272248.1:n.2301+331T>G
XM_006717067.2:c.2433+331T>G XP_006717130.1:n.2433+331T>G
XM_006717072.2:c.2319+331T>G XP_006717135.1:n.2319+331T>G
XM_006717074.2:c.1924-1481T>G XP_006717137.1:n.1924-1481T>G
XM_011518569.1:c.2457+331T>G XP_011516871.1:n.2457+331T>G
XM_011518570.1:c.2454+331T>G XP_011516872.1:n.2454+331T>G
XM_011518571.1:c.2442+331T>G XP_011516873.1:n.2442+331T>G
XM_011518572.1:c.2439+331T>G XP_011516874.1:n.2439+331T>G
XM_011518573.1:c.2388+331T>G XP_011516875.1:n.2388+331T>G
XM_011518574.1:c.2364+1301T>G XP_011516876.1:n.2364+1301T>G
XM_011518575.1:c.2361+1301T>G XP_011516877.1:n.2361+1301T>G
XM_011518576.1:c.2107-1481T>G XP_011516878.1:n.2107-1481T>G
XM_011518577.1:c.2104-1481T>G XP_011516879.1:n.2104-1481T>G
XM_011518578.1:c.2040+331T>G XP_011516880.1:n.2040+331T>G
XM_011518579.1:c.1948-1481T>G XP_011516881.1:n.1948-1481T>G
XM_011518580.1:c.2457+331T>G XP_011516882.1:n.2457+331T>G
XM_011518581.1:c.1948-1481T>G XP_011516883.1:n.1948-1481T>G
XR_929778.1:n.2629+331T>G
XM_005272186.4:c.2415+331T>G XP_005272243.1:n.2415+331T>G
XM_005272191.3:c.2301+331T>G XP_005272248.1:n.2301+331T>G
XM_006717067.3:c.2433+331T>G XP_006717130.1:n.2433+331T>G
XM_006717072.3:c.2319+331T>G XP_006717135.1:n.2319+331T>G
XM_006717074.3:c.1924-1481T>G XP_006717137.1:n.1924-1481T>G
XM_011518569.3:c.2457+331T>G XP_011516871.1:n.2457+331T>G
XM_011518570.3:c.2454+331T>G XP_011516872.1:n.2454+331T>G
XM_011518571.2:c.2442+331T>G XP_011516873.1:n.2442+331T>G
XM_011518572.2:c.2439+331T>G XP_011516874.1:n.2439+331T>G
XM_011518573.3:c.2388+331T>G XP_011516875.1:n.2388+331T>G
XM_011518574.3:c.2364+1301T>G XP_011516876.1:n.2364+1301T>G
XM_011518575.3:c.2361+1301T>G XP_011516877.1:n.2361+1301T>G
XM_011518576.3:c.2107-1481T>G XP_011516878.1:n.2107-1481T>G
XM_011518577.3:c.2104-1481T>G XP_011516879.1:n.2104-1481T>G
XM_011518578.3:c.2040+331T>G XP_011516880.1:n.2040+331T>G
XM_011518579.3:c.1948-1481T>G XP_011516881.1:n.1948-1481T>G
XM_011518580.3:c.2457+331T>G XP_011516882.1:n.2457+331T>G
XM_011518581.3:c.1948-1481T>G XP_011516883.1:n.1948-1481T>G
XM_017014633.1:c.2364+331T>G XP_016870122.1:n.2364+331T>G
XM_017014634.1:c.2346+331T>G XP_016870123.1:n.2346+331T>G
XM_017014635.2:c.2346+331T>G XP_016870124.1:n.2346+331T>G
XM_017014636.2:c.2322+331T>G XP_016870125.1:n.2322+331T>G
XM_017014637.2:c.2298+331T>G XP_016870126.1:n.2298+331T>G
XM_017014638.2:c.2205+1301T>G XP_016870127.1:n.2205+1301T>G
XM_017014639.2:c.2199+331T>G XP_016870128.1:n.2199+331T>G
XM_017014640.2:c.2457+331T>G XP_016870129.1:n.2457+331T>G
XM_017014641.2:c.2457+331T>G XP_016870130.1:n.2457+331T>G
XM_024447521.1:c.1902+331T>G XP_024303289.1:n.1902+331T>G
XR_001746282.2:n.2633+331T>G
NM_001304275.2:c.1906-1481T>G NP_001291204.1:n.1906-1481T>G
NM_001377935.1:c.2412+331T>G MANE Select NP_001364864.1:n.2412+331T>G
NM_001377936.1:c.1851+331T>G NP_001364865.1:n.1851+331T>G
NM_001377937.1:c.1792-1481T>G NP_001364866.1:n.1792-1481T>G
NM_001377938.1:c.2301+331T>G NP_001364867.1:n.2301+331T>G
NM_005312.4:c.1855-1481T>G NP_005303.2:n.1855-1481T>G
NM_198679.2:c.1909-1481T>G NP_941372.1:n.1909-1481T>G