Canonical Allele Identifier: CA387838225
Community Standard Title: NM_001385012.1(NBEA):c.7685T>C (p.Met2562Thr)
Gene: NBEA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.35646263T>C , CM000675.2:g.35646263T>C GRCh38
NC_000013.10:g.36220400T>C , CM000675.1:g.36220400T>C GRCh37
NC_000013.9:g.35118400T>C NCBI36
NG_028156.1:g.708977T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001385012.1:c.7685T>C MANE Select NP_001371941.1:p.Met2562Thr
ENST00000379939.7:c.7685T>C MANE Select ENSP00000369271.2:p.Met2562Thr
NM_001204197.1:c.1001T>C NP_001191126.1:p.Met334Thr
NM_001204197.2:c.1001T>C NP_001191126.1:p.Met334Thr
NM_001204197.3:c.1001T>C NP_001191126.1:p.Met334Thr
NM_001379245.1:c.7676T>C NP_001366174.1:p.Met2559Thr
NM_015678.4:c.7622T>C NP_056493.3:p.Met2541Thr
NM_015678.5:c.7622T>C NP_056493.3:p.Met2541Thr
ENST00000310336.8:c.7625T>C ENSP00000308534.5:p.Met2542Thr
ENST00000379922.3:c.356T>C ENSP00000369254.3:p.Met119Thr
ENST00000379922.4:n.831T>C
ENST00000379939.6:c.7613T>C ENSP00000369271.1:p.Met2538Thr
ENST00000400445.7:c.7622T>C ENSP00000383295.3:p.Met2541Thr
ENST00000400445.8:c.7622T>C ENSP00000383295.3:p.Met2541Thr
ENST00000537702.5:c.1001T>C ENSP00000440233.1:p.Met334Thr
ENST00000537702.6:c.1001T>C ENSP00000440233.1:p.Met334Thr
ENST00000629018.2:c.7622T>C ENSP00000486239.1:p.Met2541Thr
ENST00000629018.3:c.3486T>C
ENST00000629018.4:c.3266T>C ENSP00000486239.3:p.Met1089Thr
ENST00000685329.1:c.1001T>C ENSP00000509799.1:p.Met334Thr
ENST00000685686.1:c.1001T>C ENSP00000509879.1:p.Met334Thr
ENST00000685987.1:c.1139T>C ENSP00000508957.1:p.Met380Thr
ENST00000686320.1:c.1844T>C ENSP00000508724.1:p.Met615Thr
ENST00000686386.1:n.3540T>C
ENST00000686741.1:c.1001T>C ENSP00000510596.1:p.Met334Thr
ENST00000686952.1:c.1001T>C ENSP00000509331.1:p.Met334Thr
ENST00000687287.1:c.1049T>C ENSP00000510538.1:p.Met350Thr
ENST00000687952.1:n.821T>C
ENST00000688312.1:n.1894T>C
ENST00000688335.1:c.1001T>C ENSP00000509646.1:p.Met334Thr
ENST00000688363.1:c.5372T>C ENSP00000510178.1:p.Met1791Thr
ENST00000688626.1:c.5468T>C ENSP00000509239.1:p.Met1823Thr
ENST00000689079.1:n.261T>C
ENST00000689454.1:c.1001T>C ENSP00000509389.1:p.Met334Thr
ENST00000690972.1:n.639T>C
ENST00000690976.1:c.971T>C ENSP00000510740.1:p.Met324Thr
ENST00000691561.1:c.1001T>C ENSP00000510517.1:p.Met334Thr
ENST00000692578.1:c.5T>C ENSP00000509667.1:p.Met2Thr
ENST00000693205.1:n.4435T>C
ENST00000693262.1:c.1001T>C ENSP00000509811.1:p.Met334Thr
ENST00000693547.1:c.1367T>C ENSP00000508942.1:n.1367T>C
ENST00000693712.1:n.40T>C
ENST00000693735.1:c.689T>C ENSP00000508505.1:p.Met230Thr
XM_005266346.3:c.7622T>C XP_005266403.1:p.Met2541Thr
XM_005266346.4:c.7622T>C XP_005266403.1:p.Met2541Thr
XM_005266347.3:c.7685T>C XP_005266404.2:p.Met2562Thr
XM_005266347.4:c.7685T>C XP_005266404.2:p.Met2562Thr
XM_005266348.3:c.7676T>C XP_005266405.2:p.Met2559Thr
XM_005266348.4:c.7676T>C XP_005266405.2:p.Met2559Thr
XM_005266350.2:c.6707T>C XP_005266407.1:p.Met2236Thr
XM_006719803.2:c.7685T>C XP_006719866.1:p.Met2562Thr
XM_006719803.3:c.7685T>C XP_006719866.1:p.Met2562Thr
XM_006719805.2:c.7613T>C XP_006719868.1:p.Met2538Thr
XM_006719805.3:c.7613T>C XP_006719868.1:p.Met2538Thr
XM_006719806.2:c.7613T>C XP_006719869.1:p.Met2538Thr
XM_006719806.3:c.7613T>C XP_006719869.1:p.Met2538Thr
XM_011535046.1:c.6248T>C XP_011533348.1:p.Met2083Thr
XM_011535046.2:c.6248T>C XP_011533348.1:p.Met2083Thr
XM_017020544.1:c.7667T>C XP_016876033.1:p.Met2556Thr
XM_017020545.1:c.7604T>C XP_016876034.1:p.Met2535Thr
XM_017020546.1:c.7364T>C XP_016876035.1:p.Met2455Thr
XM_024449338.1:c.6299T>C XP_024305106.1:p.Met2100Thr