LDH info

Canonical Allele Identifier: CA253762
Gene: SNCAIP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6078
dbSNP Id: rs28937592

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122450708C>T , CM000667.2:g.122450708C>T GRCh38
NC_000005.9:g.121786403C>T , CM000667.1:g.121786403C>T GRCh37
NC_000005.8:g.121814302C>T NCBI36
NG_011486.1:g.143584C>T
NG_011486.2:g.143584C>T

Transcript Alleles

HGVS Amino-acid change
NM_001242935.1:c.763C>T VV NP_001229864.1:p.Arg255Cys
NM_001242935.2:c.763C>T VV NP_001229864.1:p.Arg255Cys
NM_001308100.1:c.2002C>T VV NP_001295029.1:p.Arg668Cys
NM_001308105.1:c.1681C>T VV NP_001295034.1:p.Arg561Cys
NM_001308106.1:c.757C>T VV NP_001295035.1:p.Arg253Cys
NM_001308107.1:c.763C>T VV NP_001295036.1:p.Arg255Cys
NM_001308108.1:c.943C>T VV NP_001295037.1:p.Arg315Cys
NM_001308109.1:c.649C>T VV NP_001295038.1:p.Arg217Cys
NM_005460.2:c.1861C>T VV NP_005451.2:p.Arg621Cys
NM_005460.3:c.1861C>T VV NP_005451.2:p.Arg621Cys
NR_051996.1:n.464-42G>A
NR_131761.1:n.2273C>T
NR_131762.1:n.1002C>T
XM_005272138.3:c.1861C>T XP_005272195.1:p.Arg621Cys
XM_005272139.1:c.1861C>T XP_005272196.1:p.Arg621Cys
XM_006714734.2:c.1861C>T XP_006714797.1:p.Arg621Cys
XM_011543736.1:c.2002C>T XP_011542038.1:p.Arg668Cys
XM_011543737.1:c.2002C>T XP_011542039.1:p.Arg668Cys
XM_011543738.1:c.2002C>T XP_011542040.1:p.Arg668Cys
XM_011543739.1:c.2002C>T XP_011542041.1:p.Arg668Cys
XM_011543741.1:c.2002C>T XP_011542043.1:p.Arg668Cys
XM_011543742.1:c.2002C>T XP_011542044.1:p.Arg668Cys
XM_011543743.1:c.2002C>T XP_011542045.1:p.Arg668Cys
XM_011543744.1:c.2002C>T XP_011542046.1:p.Arg668Cys
XM_011543745.1:c.1861C>T XP_011542047.1:p.Arg621Cys
XM_011543746.1:c.2002C>T XP_011542048.1:p.Arg668Cys
XM_011543747.1:c.1822C>T XP_011542049.1:p.Arg608Cys
XM_011543748.1:c.1681C>T XP_011542050.1:p.Arg561Cys
XM_011543749.1:c.781C>T XP_011542051.1:p.Arg261Cys
XM_011543750.1:c.757C>T XP_011542052.1:p.Arg253Cys
XM_005272138.4:c.1861C>T XP_005272195.1:p.Arg621Cys
XM_011543737.2:c.2002C>T XP_011542039.1:p.Arg668Cys
XM_011543738.2:c.2002C>T XP_011542040.1:p.Arg668Cys
XM_011543741.2:c.2002C>T XP_011542043.1:p.Arg668Cys
XM_011543743.2:c.2002C>T XP_011542045.1:p.Arg668Cys
XM_011543749.2:c.781C>T XP_011542051.1:p.Arg261Cys
XM_017010078.1:c.2002C>T XP_016865567.1:p.Arg668Cys
XM_017010079.1:c.2002C>T XP_016865568.1:p.Arg668Cys
XM_017010080.1:c.2002C>T XP_016865569.1:p.Arg668Cys
XM_017010081.1:c.2002C>T XP_016865570.1:p.Arg668Cys
XM_017010082.1:c.1861C>T XP_016865571.1:p.Arg621Cys
XM_017010083.1:c.781C>T XP_016865572.1:p.Arg261Cys
XM_017010085.1:c.757C>T XP_016865574.1:p.Arg253Cys
XM_024446266.1:c.1861C>T XP_024302034.1:p.Arg621Cys
XM_024446267.1:c.1861C>T XP_024302035.1:p.Arg621Cys
XM_024446268.1:c.1861C>T XP_024302036.1:p.Arg621Cys
XM_024446269.1:c.781C>T XP_024302037.1:p.Arg261Cys
XR_001742362.1:n.2415C>T
NM_005460.4:c.1861C>T VV MANE Preferred NP_005451.2:p.Arg621Cys
ENST00000261367.11:c.2002C>T ENSP00000261367.7:p.Arg668Cys
ENST00000261368.12:c.1861C>T ENSP00000261368.8:p.Arg621Cys
ENST00000379538.7:c.763C>T ENSP00000368854.3:p.Arg255Cys
ENST00000395466.6:n.989C>T ENSP00000378849.2:p.=
ENST00000395469.6:n.2227C>T ENSP00000378852.2:p.=
ENST00000414317.6:n.695C>T ENSP00000394392.3:p.=
ENST00000504884.6:n.989C>T ENSP00000426904.2:p.=
ENST00000508017.5:c.*608C>T ENSP00000424338.1:p.=
ENST00000509023.5:c.*506C>T ENSP00000427078.1:p.=
ENST00000509154.6:c.1681C>T ENSP00000422106.2:p.Arg561Cys
ENST00000510658.5:c.*663C>T ENSP00000426526.1:p.=
ENST00000512146.6:n.950C>T ENSP00000423360.2:p.=
ENST00000512385.5:c.*608C>T ENSP00000426280.1:p.=
ENST00000513719.1:n.846C>T
ENST00000515215.6:n.809C>T ENSP00000427575.2:p.=
ENST00000542191.5:c.*608C>T ENSP00000441681.2:p.=