Canonical Allele Identifier: CA387987896
Community Standard Title: NM_001385012.1(NBEA):c.7543C>A (p.Leu2515Met)
Gene: NBEA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.35628174C>A , CM000675.2:g.35628174C>A GRCh38
NC_000013.10:g.36202311C>A , CM000675.1:g.36202311C>A GRCh37
NC_000013.9:g.35100311C>A NCBI36
NG_028156.1:g.690888C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001385012.1:c.7543C>A MANE Select NP_001371941.1:p.Leu2515Met
ENST00000379939.7:c.7543C>A MANE Select ENSP00000369271.2:p.Leu2515Met
NM_001204197.1:c.922C>A NP_001191126.1:p.Leu308Met
NM_001204197.2:c.922C>A NP_001191126.1:p.Leu308Met
NM_001204197.3:c.922C>A NP_001191126.1:p.Leu308Met
NM_001379245.1:c.7534C>A NP_001366174.1:p.Leu2512Met
NM_015678.4:c.7543C>A NP_056493.3:p.Leu2515Met
NM_015678.5:c.7543C>A NP_056493.3:p.Leu2515Met
ENST00000310336.8:c.7546C>A ENSP00000308534.5:p.Leu2516Met
ENST00000379922.3:c.214C>A ENSP00000369254.3:p.Leu72Met
ENST00000379922.4:n.689C>A
ENST00000379939.6:c.7534C>A ENSP00000369271.1:p.Leu2512Met
ENST00000400445.7:c.7543C>A ENSP00000383295.3:p.Leu2515Met
ENST00000400445.8:c.7543C>A ENSP00000383295.3:p.Leu2515Met
ENST00000537702.5:c.922C>A ENSP00000440233.1:p.Leu308Met
ENST00000537702.6:c.922C>A ENSP00000440233.1:p.Leu308Met
ENST00000629018.2:c.7543C>A ENSP00000486239.1:p.Leu2515Met
ENST00000629018.3:c.3407C>A
ENST00000629018.4:c.3187C>A ENSP00000486239.3:p.Leu1063Met
ENST00000685163.1:n.1366C>A
ENST00000685329.1:c.922C>A ENSP00000509799.1:p.Leu308Met
ENST00000685686.1:c.922C>A ENSP00000509879.1:p.Leu308Met
ENST00000685987.1:c.1060C>A ENSP00000508957.1:p.Leu354Met
ENST00000686320.1:c.1765C>A ENSP00000508724.1:p.Leu589Met
ENST00000686386.1:n.3461C>A
ENST00000686669.1:n.1896C>A
ENST00000686741.1:c.922C>A ENSP00000510596.1:p.Leu308Met
ENST00000686952.1:c.922C>A ENSP00000509331.1:p.Leu308Met
ENST00000687287.1:c.970C>A ENSP00000510538.1:p.Leu324Met
ENST00000687587.1:n.998C>A
ENST00000687952.1:n.742C>A
ENST00000688312.1:n.1815C>A
ENST00000688335.1:c.922C>A ENSP00000509646.1:p.Leu308Met
ENST00000688363.1:c.5293C>A ENSP00000510178.1:p.Leu1765Met
ENST00000688626.1:c.5389C>A ENSP00000509239.1:p.Leu1797Met
ENST00000689207.1:n.3833C>A
ENST00000689454.1:c.922C>A ENSP00000509389.1:p.Leu308Met
ENST00000690972.1:n.560C>A
ENST00000690976.1:c.967-18085C>A ENSP00000510740.1:n.967-18085C>A
ENST00000691097.1:n.2253C>A
ENST00000691561.1:c.922C>A ENSP00000510517.1:p.Leu308Met
ENST00000693205.1:n.4356C>A
ENST00000693262.1:c.922C>A ENSP00000509811.1:p.Leu308Met
ENST00000693547.1:c.1288C>A ENSP00000508942.1:n.1288C>A
ENST00000693735.1:c.610C>A ENSP00000508505.1:p.Leu204Met
XM_005266346.3:c.7543C>A XP_005266403.1:p.Leu2515Met
XM_005266346.4:c.7543C>A XP_005266403.1:p.Leu2515Met
XM_005266347.3:c.7543C>A XP_005266404.2:p.Leu2515Met
XM_005266347.4:c.7543C>A XP_005266404.2:p.Leu2515Met
XM_005266348.3:c.7534C>A XP_005266405.2:p.Leu2512Met
XM_005266348.4:c.7534C>A XP_005266405.2:p.Leu2512Met
XM_005266350.2:c.6565C>A XP_005266407.1:p.Leu2189Met
XM_006719803.2:c.7543C>A XP_006719866.1:p.Leu2515Met
XM_006719803.3:c.7543C>A XP_006719866.1:p.Leu2515Met
XM_006719805.2:c.7534C>A XP_006719868.1:p.Leu2512Met
XM_006719805.3:c.7534C>A XP_006719868.1:p.Leu2512Met
XM_006719806.2:c.7534C>A XP_006719869.1:p.Leu2512Met
XM_006719806.3:c.7534C>A XP_006719869.1:p.Leu2512Met
XM_011535045.1:c.7543C>A XP_011533347.1:p.Leu2515Met
XM_011535046.1:c.6106C>A XP_011533348.1:p.Leu2036Met
XM_011535046.2:c.6106C>A XP_011533348.1:p.Leu2036Met
XM_017020544.1:c.7525C>A XP_016876033.1:p.Leu2509Met
XM_017020545.1:c.7525C>A XP_016876034.1:p.Leu2509Met
XM_017020546.1:c.7222C>A XP_016876035.1:p.Leu2408Met
XM_024449338.1:c.6157C>A XP_024305106.1:p.Leu2053Met