Canonical Allele Identifier: CA3385046
Gene: SNCAIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2277017
ClinVar RCV Id: RCV004124826
dbSNP Id: rs180907131

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122451023T>A , CM000667.2:g.122451023T>A GRCh38
NC_000005.9:g.121786718T>A , CM000667.1:g.121786718T>A GRCh37
NC_000005.8:g.121814617T>A NCBI36
NG_011486.1:g.143899T>A
NG_011486.2:g.143899T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261368.13:c.2176T>A MANE Select ENSP00000261368.8:p.Leu726Met
ENST00000261367.11:c.2317T>A ENSP00000261367.7:p.Leu773Met
ENST00000261368.12:c.2176T>A ENSP00000261368.8:p.Leu726Met
ENST00000379538.7:c.1078T>A ENSP00000368854.3:p.Leu360Met
ENST00000395466.6:c.1304T>A ENSP00000378849.2:n.1304T>A
ENST00000395469.6:c.2542T>A ENSP00000378852.2:n.2542T>A
ENST00000414317.6:c.1010T>A ENSP00000394392.3:n.1010T>A
ENST00000504884.6:c.1304T>A ENSP00000426904.2:n.1304T>A
ENST00000508017.5:c.*923T>A ENSP00000424338.1:n.*923T>A
ENST00000509023.5:c.*821T>A ENSP00000427078.1:n.*821T>A
ENST00000509154.6:c.1996T>A ENSP00000422106.2:p.Leu666Met
ENST00000510658.5:c.*978T>A ENSP00000426526.1:n.*978T>A
ENST00000512146.6:c.1265T>A ENSP00000423360.2:n.1265T>A
ENST00000512385.5:c.*923T>A ENSP00000426280.1:n.*923T>A
ENST00000513719.1:n.1161T>A
ENST00000515215.6:c.1124T>A ENSP00000427575.2:n.1124T>A
ENST00000542191.5:c.*923T>A ENSP00000441681.2:n.*923T>A
NM_001242935.1:c.1078T>A NP_001229864.1:p.Leu360Met
NM_001242935.2:c.1078T>A NP_001229864.1:p.Leu360Met
NM_001308100.1:c.2317T>A NP_001295029.1:p.Leu773Met
NM_001308105.1:c.1996T>A NP_001295034.1:p.Leu666Met
NM_001308106.1:c.1072T>A NP_001295035.1:p.Leu358Met
NM_001308107.1:c.1078T>A NP_001295036.1:p.Leu360Met
NM_001308108.1:c.1258T>A NP_001295037.1:p.Leu420Met
NM_001308109.1:c.964T>A NP_001295038.1:p.Leu322Met
NM_005460.2:c.2176T>A NP_005451.2:p.Leu726Met
NM_005460.3:c.2176T>A NP_005451.2:p.Leu726Met
NR_051996.1:n.464-357A>T
NR_131761.1:n.2588T>A
NR_131762.1:n.1317T>A
XM_005272138.3:c.2176T>A XP_005272195.1:p.Leu726Met
XM_005272139.1:c.2176T>A XP_005272196.1:p.Leu726Met
XM_006714734.2:c.2176T>A XP_006714797.1:p.Leu726Met
XM_011543736.1:c.2317T>A XP_011542038.1:p.Leu773Met
XM_011543737.1:c.2317T>A XP_011542039.1:p.Leu773Met
XM_011543738.1:c.2317T>A XP_011542040.1:p.Leu773Met
XM_011543739.1:c.2317T>A XP_011542041.1:p.Leu773Met
XM_011543741.1:c.2317T>A XP_011542043.1:p.Leu773Met
XM_011543742.1:c.2317T>A XP_011542044.1:p.Leu773Met
XM_011543743.1:c.2317T>A XP_011542045.1:p.Leu773Met
XM_011543744.1:c.2317T>A XP_011542046.1:p.Leu773Met
XM_011543745.1:c.2176T>A XP_011542047.1:p.Leu726Met
XM_011543746.1:c.2317T>A XP_011542048.1:p.Leu773Met
XM_011543747.1:c.2137T>A XP_011542049.1:p.Leu713Met
XM_011543748.1:c.1996T>A XP_011542050.1:p.Leu666Met
XM_011543749.1:c.1096T>A XP_011542051.1:p.Leu366Met
XM_011543750.1:c.1072T>A XP_011542052.1:p.Leu358Met
XM_005272138.4:c.2176T>A XP_005272195.1:p.Leu726Met
XM_011543737.2:c.2317T>A XP_011542039.1:p.Leu773Met
XM_011543738.2:c.2317T>A XP_011542040.1:p.Leu773Met
XM_011543741.2:c.2317T>A XP_011542043.1:p.Leu773Met
XM_011543743.2:c.2317T>A XP_011542045.1:p.Leu773Met
XM_011543749.2:c.1096T>A XP_011542051.1:p.Leu366Met
XM_017010078.1:c.2317T>A XP_016865567.1:p.Leu773Met
XM_017010079.1:c.2317T>A XP_016865568.1:p.Leu773Met
XM_017010080.1:c.2317T>A XP_016865569.1:p.Leu773Met
XM_017010081.1:c.2317T>A XP_016865570.1:p.Leu773Met
XM_017010082.1:c.2176T>A XP_016865571.1:p.Leu726Met
XM_017010083.1:c.1096T>A XP_016865572.1:p.Leu366Met
XM_017010085.1:c.1072T>A XP_016865574.1:p.Leu358Met
XM_024446266.1:c.2176T>A XP_024302034.1:p.Leu726Met
XM_024446267.1:c.2176T>A XP_024302035.1:p.Leu726Met
XM_024446268.1:c.2176T>A XP_024302036.1:p.Leu726Met
XM_024446269.1:c.1096T>A XP_024302037.1:p.Leu366Met
XR_001742362.1:n.2730T>A
NM_005460.4:c.2176T>A MANE Select NP_005451.2:p.Leu726Met
NM_001308100.2:c.2317T>A NP_001295029.1:p.Leu773Met
NM_001308107.2:c.1078T>A NP_001295036.1:p.Leu360Met
NM_001308109.2:c.964T>A NP_001295038.1:p.Leu322Met
NM_001242935.3:c.1078T>A NP_001229864.1:p.Leu360Met