Canonical Allele Identifier: CA400480655

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 855550
• ClinVar RCV Id: RCV001060834
• dbSNP Id: rs2061324880
• MyVariant Identifiers: chr17:g.59761445A>G (hg19) ; chr17:g.61684084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684084A>G , CM000679.2:g.61684084A>G	GRCh38
NC_000017.10:g.59761445A>G , CM000679.1:g.59761445A>G	GRCh37
NC_000017.9:g.57116227A>G	NCBI36
NG_007409.2:g.184476T>C , LRG_300:g.184476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1702T>C
ENST00000682453.1:c.2962T>C	ENSP00000506943.1:p.Ser988Pro
ENST00000682477.1:c.*2388T>C	ENSP00000507075.1:n.*2388T>C
ENST00000682589.1:n.8839T>C
ENST00000682755.1:c.2740T>C	ENSP00000507660.1:p.Ser914Pro
ENST00000682989.1:c.*53T>C	ENSP00000507786.1:n.*53T>C
ENST00000683039.1:c.2962T>C	ENSP00000508303.1:p.Ser988Pro
ENST00000683235.1:c.*377T>C	ENSP00000507646.1:n.*377T>C
ENST00000683535.1:n.1092T>C
ENST00000684584.1:c.2125T>C	ENSP00000508044.1:p.Ser709Pro
ENST00000684626.1:n.1208T>C
ENST00000684769.1:c.1152T>C	ENSP00000507691.1:n.1152T>C
ENST00000259008.7:c.2962T>C MANE Select	ENSP00000259008.2:p.Ser988Pro
ENST00000259008.6:c.2962T>C	ENSP00000259008.2:p.Ser988Pro
NM_032043.2:c.2962T>C , LRG_300t1:c.2962T>C	NP_114432.2:p.Ser988Pro
XM_011525332.1:c.3022T>C	XP_011523634.1:p.Ser1008Pro
XM_011525333.1:c.3022T>C	XP_011523635.1:p.Ser1008Pro
XM_011525334.1:c.3022T>C	XP_011523636.1:p.Ser1008Pro
XM_011525335.1:c.2962T>C	XP_011523637.1:p.Ser988Pro
XM_011525336.1:c.2902T>C	XP_011523638.1:p.Ser968Pro
XM_011525337.1:c.2821T>C	XP_011523639.1:p.Ser941Pro
XM_011525338.1:c.2539T>C	XP_011523640.1:p.Ser847Pro
XM_011525332.3:c.3022T>C	XP_011523634.1:p.Ser1008Pro
XM_011525333.3:c.3022T>C	XP_011523635.1:p.Ser1008Pro
XM_011525334.2:c.3022T>C	XP_011523636.1:p.Ser1008Pro
XM_011525335.3:c.2962T>C	XP_011523637.1:p.Ser988Pro
XM_011525336.2:c.2902T>C	XP_011523638.1:p.Ser968Pro
XM_011525337.2:c.2821T>C	XP_011523639.1:p.Ser941Pro
XM_011525338.2:c.2539T>C	XP_011523640.1:p.Ser847Pro
XM_017025200.1:c.2479T>C	XP_016880689.1:p.Ser827Pro
XM_017025201.1:c.2479T>C	XP_016880690.1:p.Ser827Pro
XM_017025202.1:c.1108T>C	XP_016880691.1:p.Ser370Pro
XM_017025203.1:c.1108T>C	XP_016880692.1:p.Ser370Pro
NM_032043.3:c.2962T>C MANE Select	NP_114432.2:p.Ser988Pro