Canonical Allele Identifier: CA292267187
Community Standard Title: NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683523T>C , CM000679.2:g.61683523T>C GRCh38
NC_000017.10:g.59760884T>C , CM000679.1:g.59760884T>C GRCh37
NC_000017.9:g.57115666T>C NCBI36
NG_007409.2:g.185037A>G , LRG_300:g.185037A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3523A>G MANE Select NP_114432.2:p.Thr1175Ala
ENST00000259008.7:c.3523A>G MANE Select ENSP00000259008.2:p.Thr1175Ala
NM_032043.2:c.3523A>G , LRG_300t1:c.3523A>G NP_114432.2:p.Thr1175Ala
ENST00000259008.6:c.3523A>G ENSP00000259008.2:p.Thr1175Ala
ENST00000682073.1:n.2263A>G
ENST00000682453.1:c.3523A>G ENSP00000506943.1:p.Thr1175Ala
ENST00000682477.1:c.*2949A>G ENSP00000507075.1:n.*2949A>G
ENST00000682589.1:n.9400A>G
ENST00000682755.1:c.3301A>G ENSP00000507660.1:p.Thr1101Ala
ENST00000682989.1:c.*614A>G ENSP00000507786.1:n.*614A>G
ENST00000683039.1:c.3523A>G ENSP00000508303.1:p.Thr1175Ala
ENST00000683235.1:c.*938A>G ENSP00000507646.1:n.*938A>G
ENST00000683535.1:n.1653A>G
ENST00000684584.1:c.2686A>G ENSP00000508044.1:p.Thr896Ala
ENST00000684626.1:n.1769A>G
ENST00000684769.1:c.1713A>G ENSP00000507691.1:n.1713A>G
XM_011525332.1:c.3583A>G XP_011523634.1:p.Thr1195Ala
XM_011525332.3:c.3583A>G XP_011523634.1:p.Thr1195Ala
XM_011525333.1:c.3583A>G XP_011523635.1:p.Thr1195Ala
XM_011525333.3:c.3583A>G XP_011523635.1:p.Thr1195Ala
XM_011525334.1:c.3583A>G XP_011523636.1:p.Thr1195Ala
XM_011525334.2:c.3583A>G XP_011523636.1:p.Thr1195Ala
XM_011525335.1:c.3523A>G XP_011523637.1:p.Thr1175Ala
XM_011525335.3:c.3523A>G XP_011523637.1:p.Thr1175Ala
XM_011525336.1:c.3463A>G XP_011523638.1:p.Thr1155Ala
XM_011525336.2:c.3463A>G XP_011523638.1:p.Thr1155Ala
XM_011525337.1:c.3382A>G XP_011523639.1:p.Thr1128Ala
XM_011525337.2:c.3382A>G XP_011523639.1:p.Thr1128Ala
XM_011525338.1:c.3100A>G XP_011523640.1:p.Thr1034Ala
XM_011525338.2:c.3100A>G XP_011523640.1:p.Thr1034Ala
XM_017025200.1:c.3040A>G XP_016880689.1:p.Thr1014Ala
XM_017025201.1:c.3040A>G XP_016880690.1:p.Thr1014Ala
XM_017025202.1:c.1669A>G XP_016880691.1:p.Thr557Ala
XM_017025203.1:c.1669A>G XP_016880692.1:p.Thr557Ala