Canonical Allele Identifier: CA387985884
Community Standard Title: NM_001385012.1(NBEA):c.6724C>T (p.Pro2242Ser)
Gene: NBEA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.35550950C>T , CM000675.2:g.35550950C>T GRCh38
NC_000013.10:g.36125087C>T , CM000675.1:g.36125087C>T GRCh37
NC_000013.9:g.35023087C>T NCBI36
NG_028156.1:g.613664C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001385012.1:c.6724C>T MANE Select NP_001371941.1:p.Pro2242Ser
ENST00000379939.7:c.6724C>T MANE Select ENSP00000369271.2:p.Pro2242Ser
NM_001204197.1:c.103C>T NP_001191126.1:p.Pro35Ser
NM_001204197.2:c.103C>T NP_001191126.1:p.Pro35Ser
NM_001204197.3:c.103C>T NP_001191126.1:p.Pro35Ser
NM_001379245.1:c.6715C>T NP_001366174.1:p.Pro2239Ser
NM_015678.4:c.6724C>T NP_056493.3:p.Pro2242Ser
NM_015678.5:c.6724C>T NP_056493.3:p.Pro2242Ser
ENST00000310336.8:c.6727C>T ENSP00000308534.5:p.Pro2243Ser
ENST00000379939.6:c.6715C>T ENSP00000369271.1:p.Pro2239Ser
ENST00000400445.7:c.6724C>T ENSP00000383295.3:p.Pro2242Ser
ENST00000400445.8:c.6724C>T ENSP00000383295.3:p.Pro2242Ser
ENST00000537702.5:c.103C>T ENSP00000440233.1:p.Pro35Ser
ENST00000537702.6:c.103C>T ENSP00000440233.1:p.Pro35Ser
ENST00000629018.2:c.6724C>T ENSP00000486239.1:p.Pro2242Ser
ENST00000629018.3:c.2588C>T
ENST00000629018.4:c.2368C>T ENSP00000486239.3:p.Pro790Ser
ENST00000685163.1:n.547C>T
ENST00000685329.1:c.103C>T ENSP00000509799.1:p.Pro35Ser
ENST00000685686.1:c.103C>T ENSP00000509879.1:p.Pro35Ser
ENST00000685987.1:c.241C>T ENSP00000508957.1:p.Pro81Ser
ENST00000685991.1:c.241C>T ENSP00000510804.1:p.Pro81Ser
ENST00000686320.1:c.946C>T ENSP00000508724.1:p.Pro316Ser
ENST00000686386.1:n.2642C>T
ENST00000686741.1:c.103C>T ENSP00000510596.1:p.Pro35Ser
ENST00000686952.1:c.103C>T ENSP00000509331.1:p.Pro35Ser
ENST00000687287.1:c.151C>T ENSP00000510538.1:p.Pro51Ser
ENST00000687587.1:n.179C>T
ENST00000688312.1:n.996C>T
ENST00000688335.1:c.103C>T ENSP00000509646.1:p.Pro35Ser
ENST00000688363.1:c.4474C>T ENSP00000510178.1:p.Pro1492Ser
ENST00000688422.1:c.103C>T ENSP00000509488.1:p.Pro35Ser
ENST00000688626.1:c.4570C>T ENSP00000509239.1:p.Pro1524Ser
ENST00000689207.1:n.3014C>T
ENST00000689454.1:c.103C>T ENSP00000509389.1:p.Pro35Ser
ENST00000690976.1:c.241C>T ENSP00000510740.1:p.Pro81Ser
ENST00000691097.1:n.1434C>T
ENST00000691561.1:c.103C>T ENSP00000510517.1:p.Pro35Ser
ENST00000692737.1:n.1670C>T
ENST00000693262.1:c.103C>T ENSP00000509811.1:p.Pro35Ser
ENST00000693547.1:c.139C>T ENSP00000508942.1:p.Pro47Ser
ENST00000693735.1:c.103-32948C>T ENSP00000508505.1:n.103-32948C>T
XM_005266346.3:c.6724C>T XP_005266403.1:p.Pro2242Ser
XM_005266346.4:c.6724C>T XP_005266403.1:p.Pro2242Ser
XM_005266347.3:c.6724C>T XP_005266404.2:p.Pro2242Ser
XM_005266347.4:c.6724C>T XP_005266404.2:p.Pro2242Ser
XM_005266348.3:c.6715C>T XP_005266405.2:p.Pro2239Ser
XM_005266348.4:c.6715C>T XP_005266405.2:p.Pro2239Ser
XM_005266350.2:c.5746C>T XP_005266407.1:p.Pro1916Ser
XM_006719803.2:c.6724C>T XP_006719866.1:p.Pro2242Ser
XM_006719803.3:c.6724C>T XP_006719866.1:p.Pro2242Ser
XM_006719805.2:c.6715C>T XP_006719868.1:p.Pro2239Ser
XM_006719805.3:c.6715C>T XP_006719868.1:p.Pro2239Ser
XM_006719806.2:c.6715C>T XP_006719869.1:p.Pro2239Ser
XM_006719806.3:c.6715C>T XP_006719869.1:p.Pro2239Ser
XM_011535045.1:c.6724C>T XP_011533347.1:p.Pro2242Ser
XM_011535046.1:c.5287C>T XP_011533348.1:p.Pro1763Ser
XM_011535046.2:c.5287C>T XP_011533348.1:p.Pro1763Ser
XM_011535047.1:c.6724C>T XP_011533349.1:p.Pro2242Ser
XM_011535047.2:c.6724C>T XP_011533349.1:p.Pro2242Ser
XM_017020544.1:c.6706C>T XP_016876033.1:p.Pro2236Ser
XM_017020545.1:c.6706C>T XP_016876034.1:p.Pro2236Ser
XM_017020546.1:c.6403C>T XP_016876035.1:p.Pro2135Ser
XM_024449338.1:c.5338C>T XP_024305106.1:p.Pro1780Ser