Canonical Allele Identifier: CA365170453
Gene: SOBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107634471A>C , CM000668.2:g.107634471A>C GRCh38
NC_000006.11:g.107955675A>C , CM000668.1:g.107955675A>C GRCh37
NC_000006.10:g.108062368A>C NCBI36
NG_028200.1:g.149359A>C
NG_028200.2:g.149359A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317357.10:c.1627A>C MANE Select ENSP00000318900.5:p.Ile543Leu
ENST00000317357.9:c.1627A>C ENSP00000318900.5:p.Ile543Leu
NM_018013.3:c.1627A>C NP_060483.3:p.Ile543Leu
XM_005267041.3:c.1780A>C XP_005267098.1:p.Ile594Leu
XM_005267042.3:c.1684A>C XP_005267099.1:p.Ile562Leu
XM_011535920.1:c.1780A>C XP_011534222.1:p.Ile594Leu
XM_011535921.1:c.1666A>C XP_011534223.1:p.Ile556Leu
XM_011535922.1:c.1039A>C XP_011534224.1:p.Ile347Leu
XM_011535923.1:c.850A>C XP_011534225.1:p.Ile284Leu
XM_005267041.4:c.1780A>C XP_005267098.1:p.Ile594Leu
XM_005267042.4:c.1684A>C XP_005267099.1:p.Ile562Leu
XM_011535920.2:c.1780A>C XP_011534222.1:p.Ile594Leu
XM_011535921.2:c.1666A>C XP_011534223.1:p.Ile556Leu
XM_011535923.2:c.850A>C XP_011534225.1:p.Ile284Leu
XM_017010991.1:c.1180A>C XP_016866480.1:p.Ile394Leu
XM_017010992.1:c.1180A>C XP_016866481.1:p.Ile394Leu
XM_017010993.1:c.1180A>C XP_016866482.1:p.Ile394Leu
XM_017010994.1:c.1180A>C XP_016866483.1:p.Ile394Leu
NM_018013.4:c.1627A>C MANE Select NP_060483.3:p.Ile543Leu