Canonical Allele Identifier: CA400479148

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761163T>A (hg19) ; chr17:g.61683802T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683802T>A , CM000679.2:g.61683802T>A	GRCh38
NC_000017.10:g.59761163T>A , CM000679.1:g.59761163T>A	GRCh37
NC_000017.9:g.57115945T>A	NCBI36
NG_007409.2:g.184758A>T , LRG_300:g.184758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1984A>T
ENST00000682453.1:c.3244A>T	ENSP00000506943.1:p.Thr1082Ser
ENST00000682477.1:c.*2670A>T	ENSP00000507075.1:n.*2670A>T
ENST00000682589.1:n.9121A>T
ENST00000682755.1:c.3022A>T	ENSP00000507660.1:p.Thr1008Ser
ENST00000682989.1:c.*335A>T	ENSP00000507786.1:n.*335A>T
ENST00000683039.1:c.3244A>T	ENSP00000508303.1:p.Thr1082Ser
ENST00000683235.1:c.*659A>T	ENSP00000507646.1:n.*659A>T
ENST00000683535.1:n.1374A>T
ENST00000684584.1:c.2407A>T	ENSP00000508044.1:p.Thr803Ser
ENST00000684626.1:n.1490A>T
ENST00000684769.1:c.1434A>T	ENSP00000507691.1:n.1434A>T
ENST00000259008.7:c.3244A>T MANE Select	ENSP00000259008.2:p.Thr1082Ser
ENST00000259008.6:c.3244A>T	ENSP00000259008.2:p.Thr1082Ser
NM_032043.2:c.3244A>T , LRG_300t1:c.3244A>T	NP_114432.2:p.Thr1082Ser
XM_011525332.1:c.3304A>T	XP_011523634.1:p.Thr1102Ser
XM_011525333.1:c.3304A>T	XP_011523635.1:p.Thr1102Ser
XM_011525334.1:c.3304A>T	XP_011523636.1:p.Thr1102Ser
XM_011525335.1:c.3244A>T	XP_011523637.1:p.Thr1082Ser
XM_011525336.1:c.3184A>T	XP_011523638.1:p.Thr1062Ser
XM_011525337.1:c.3103A>T	XP_011523639.1:p.Thr1035Ser
XM_011525338.1:c.2821A>T	XP_011523640.1:p.Thr941Ser
XM_011525332.3:c.3304A>T	XP_011523634.1:p.Thr1102Ser
XM_011525333.3:c.3304A>T	XP_011523635.1:p.Thr1102Ser
XM_011525334.2:c.3304A>T	XP_011523636.1:p.Thr1102Ser
XM_011525335.3:c.3244A>T	XP_011523637.1:p.Thr1082Ser
XM_011525336.2:c.3184A>T	XP_011523638.1:p.Thr1062Ser
XM_011525337.2:c.3103A>T	XP_011523639.1:p.Thr1035Ser
XM_011525338.2:c.2821A>T	XP_011523640.1:p.Thr941Ser
XM_017025200.1:c.2761A>T	XP_016880689.1:p.Thr921Ser
XM_017025201.1:c.2761A>T	XP_016880690.1:p.Thr921Ser
XM_017025202.1:c.1390A>T	XP_016880691.1:p.Thr464Ser
XM_017025203.1:c.1390A>T	XP_016880692.1:p.Thr464Ser
NM_032043.3:c.3244A>T MANE Select	NP_114432.2:p.Thr1082Ser