Canonical Allele Identifier: CA8690415
Community Standard Title: NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684056G>A , CM000679.2:g.61684056G>A GRCh38
NC_000017.10:g.59761417G>A , CM000679.1:g.59761417G>A GRCh37
NC_000017.9:g.57116199G>A NCBI36
NG_007409.2:g.184504C>T , LRG_300:g.184504C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2990C>T MANE Select NP_114432.2:p.Thr997Ile
ENST00000259008.7:c.2990C>T MANE Select ENSP00000259008.2:p.Thr997Ile
NM_032043.2:c.2990C>T , LRG_300t1:c.2990C>T NP_114432.2:p.Thr997Ile
ENST00000259008.6:c.2990C>T ENSP00000259008.2:p.Thr997Ile
ENST00000682073.1:n.1730C>T
ENST00000682453.1:c.2990C>T ENSP00000506943.1:p.Thr997Ile
ENST00000682477.1:c.*2416C>T ENSP00000507075.1:n.*2416C>T
ENST00000682589.1:n.8867C>T
ENST00000682755.1:c.2768C>T ENSP00000507660.1:p.Thr923Ile
ENST00000682989.1:c.*81C>T ENSP00000507786.1:n.*81C>T
ENST00000683039.1:c.2990C>T ENSP00000508303.1:p.Thr997Ile
ENST00000683235.1:c.*405C>T ENSP00000507646.1:n.*405C>T
ENST00000683535.1:n.1120C>T
ENST00000684584.1:c.2153C>T ENSP00000508044.1:p.Thr718Ile
ENST00000684626.1:n.1236C>T
ENST00000684769.1:c.1180C>T ENSP00000507691.1:n.1180C>T
XM_011525332.1:c.3050C>T XP_011523634.1:p.Thr1017Ile
XM_011525332.3:c.3050C>T XP_011523634.1:p.Thr1017Ile
XM_011525333.1:c.3050C>T XP_011523635.1:p.Thr1017Ile
XM_011525333.3:c.3050C>T XP_011523635.1:p.Thr1017Ile
XM_011525334.1:c.3050C>T XP_011523636.1:p.Thr1017Ile
XM_011525334.2:c.3050C>T XP_011523636.1:p.Thr1017Ile
XM_011525335.1:c.2990C>T XP_011523637.1:p.Thr997Ile
XM_011525335.3:c.2990C>T XP_011523637.1:p.Thr997Ile
XM_011525336.1:c.2930C>T XP_011523638.1:p.Thr977Ile
XM_011525336.2:c.2930C>T XP_011523638.1:p.Thr977Ile
XM_011525337.1:c.2849C>T XP_011523639.1:p.Thr950Ile
XM_011525337.2:c.2849C>T XP_011523639.1:p.Thr950Ile
XM_011525338.1:c.2567C>T XP_011523640.1:p.Thr856Ile
XM_011525338.2:c.2567C>T XP_011523640.1:p.Thr856Ile
XM_017025200.1:c.2507C>T XP_016880689.1:p.Thr836Ile
XM_017025201.1:c.2507C>T XP_016880690.1:p.Thr836Ile
XM_017025202.1:c.1136C>T XP_016880691.1:p.Thr379Ile
XM_017025203.1:c.1136C>T XP_016880692.1:p.Thr379Ile