Canonical Allele Identifier: CA400479057

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1055888
• ClinVar RCV Id: RCV001364635
• dbSNP Id: rs1479296707
• MyVariant Identifiers: chr17:g.59761123G>A (hg19) ; chr17:g.61683762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683762G>A , CM000679.2:g.61683762G>A	GRCh38
NC_000017.10:g.59761123G>A , CM000679.1:g.59761123G>A	GRCh37
NC_000017.9:g.57115905G>A	NCBI36
NG_007409.2:g.184798C>T , LRG_300:g.184798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2024C>T
ENST00000682453.1:c.3284C>T	ENSP00000506943.1:p.Ser1095Phe
ENST00000682477.1:c.*2710C>T	ENSP00000507075.1:n.*2710C>T
ENST00000682589.1:n.9161C>T
ENST00000682755.1:c.3062C>T	ENSP00000507660.1:p.Ser1021Phe
ENST00000682989.1:c.*375C>T	ENSP00000507786.1:n.*375C>T
ENST00000683039.1:c.3284C>T	ENSP00000508303.1:p.Ser1095Phe
ENST00000683235.1:c.*699C>T	ENSP00000507646.1:n.*699C>T
ENST00000683535.1:n.1414C>T
ENST00000684584.1:c.2447C>T	ENSP00000508044.1:p.Ser816Phe
ENST00000684626.1:n.1530C>T
ENST00000684769.1:c.1474C>T	ENSP00000507691.1:n.1474C>T
ENST00000259008.7:c.3284C>T MANE Select	ENSP00000259008.2:p.Ser1095Phe
ENST00000259008.6:c.3284C>T	ENSP00000259008.2:p.Ser1095Phe
NM_032043.2:c.3284C>T , LRG_300t1:c.3284C>T	NP_114432.2:p.Ser1095Phe
XM_011525332.1:c.3344C>T	XP_011523634.1:p.Ser1115Phe
XM_011525333.1:c.3344C>T	XP_011523635.1:p.Ser1115Phe
XM_011525334.1:c.3344C>T	XP_011523636.1:p.Ser1115Phe
XM_011525335.1:c.3284C>T	XP_011523637.1:p.Ser1095Phe
XM_011525336.1:c.3224C>T	XP_011523638.1:p.Ser1075Phe
XM_011525337.1:c.3143C>T	XP_011523639.1:p.Ser1048Phe
XM_011525338.1:c.2861C>T	XP_011523640.1:p.Ser954Phe
XM_011525332.3:c.3344C>T	XP_011523634.1:p.Ser1115Phe
XM_011525333.3:c.3344C>T	XP_011523635.1:p.Ser1115Phe
XM_011525334.2:c.3344C>T	XP_011523636.1:p.Ser1115Phe
XM_011525335.3:c.3284C>T	XP_011523637.1:p.Ser1095Phe
XM_011525336.2:c.3224C>T	XP_011523638.1:p.Ser1075Phe
XM_011525337.2:c.3143C>T	XP_011523639.1:p.Ser1048Phe
XM_011525338.2:c.2861C>T	XP_011523640.1:p.Ser954Phe
XM_017025200.1:c.2801C>T	XP_016880689.1:p.Ser934Phe
XM_017025201.1:c.2801C>T	XP_016880690.1:p.Ser934Phe
XM_017025202.1:c.1430C>T	XP_016880691.1:p.Ser477Phe
XM_017025203.1:c.1430C>T	XP_016880692.1:p.Ser477Phe
NM_032043.3:c.3284C>T MANE Select	NP_114432.2:p.Ser1095Phe