Canonical Allele Identifier: CA400478822

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761012A>G (hg19) ; chr17:g.61683651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683651A>G , CM000679.2:g.61683651A>G	GRCh38
NC_000017.10:g.59761012A>G , CM000679.1:g.59761012A>G	GRCh37
NC_000017.9:g.57115794A>G	NCBI36
NG_007409.2:g.184909T>C , LRG_300:g.184909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2135T>C
ENST00000682453.1:c.3395T>C	ENSP00000506943.1:p.Phe1132Ser
ENST00000682477.1:c.*2821T>C	ENSP00000507075.1:n.*2821T>C
ENST00000682589.1:n.9272T>C
ENST00000682755.1:c.3173T>C	ENSP00000507660.1:p.Phe1058Ser
ENST00000682989.1:c.*486T>C	ENSP00000507786.1:n.*486T>C
ENST00000683039.1:c.3395T>C	ENSP00000508303.1:p.Phe1132Ser
ENST00000683235.1:c.*810T>C	ENSP00000507646.1:n.*810T>C
ENST00000683535.1:n.1525T>C
ENST00000684584.1:c.2558T>C	ENSP00000508044.1:p.Phe853Ser
ENST00000684626.1:n.1641T>C
ENST00000684769.1:c.1585T>C	ENSP00000507691.1:n.1585T>C
ENST00000259008.7:c.3395T>C MANE Select	ENSP00000259008.2:p.Phe1132Ser
ENST00000259008.6:c.3395T>C	ENSP00000259008.2:p.Phe1132Ser
NM_032043.2:c.3395T>C , LRG_300t1:c.3395T>C	NP_114432.2:p.Phe1132Ser
XM_011525332.1:c.3455T>C	XP_011523634.1:p.Phe1152Ser
XM_011525333.1:c.3455T>C	XP_011523635.1:p.Phe1152Ser
XM_011525334.1:c.3455T>C	XP_011523636.1:p.Phe1152Ser
XM_011525335.1:c.3395T>C	XP_011523637.1:p.Phe1132Ser
XM_011525336.1:c.3335T>C	XP_011523638.1:p.Phe1112Ser
XM_011525337.1:c.3254T>C	XP_011523639.1:p.Phe1085Ser
XM_011525338.1:c.2972T>C	XP_011523640.1:p.Phe991Ser
XM_011525332.3:c.3455T>C	XP_011523634.1:p.Phe1152Ser
XM_011525333.3:c.3455T>C	XP_011523635.1:p.Phe1152Ser
XM_011525334.2:c.3455T>C	XP_011523636.1:p.Phe1152Ser
XM_011525335.3:c.3395T>C	XP_011523637.1:p.Phe1132Ser
XM_011525336.2:c.3335T>C	XP_011523638.1:p.Phe1112Ser
XM_011525337.2:c.3254T>C	XP_011523639.1:p.Phe1085Ser
XM_011525338.2:c.2972T>C	XP_011523640.1:p.Phe991Ser
XM_017025200.1:c.2912T>C	XP_016880689.1:p.Phe971Ser
XM_017025201.1:c.2912T>C	XP_016880690.1:p.Phe971Ser
XM_017025202.1:c.1541T>C	XP_016880691.1:p.Phe514Ser
XM_017025203.1:c.1541T>C	XP_016880692.1:p.Phe514Ser
NM_032043.3:c.3395T>C MANE Select	NP_114432.2:p.Phe1132Ser