Canonical Allele Identifier: CA400478975

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 945106
• ClinVar RCV Id: RCV001215656 ; RCV002322045
• dbSNP Id: rs2061311430
• gnomAD v3: 17-61683720-C-T
• gnomAD v4: 17-61683720-C-T
• MyVariant Identifiers: chr17:g.59761081C>T (hg19) ; chr17:g.61683720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683720C>T , CM000679.2:g.61683720C>T	GRCh38
NC_000017.10:g.59761081C>T , CM000679.1:g.59761081C>T	GRCh37
NC_000017.9:g.57115863C>T	NCBI36
NG_007409.2:g.184840G>A , LRG_300:g.184840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2066G>A
ENST00000682453.1:c.3326G>A	ENSP00000506943.1:p.Ser1109Asn
ENST00000682477.1:c.*2752G>A	ENSP00000507075.1:n.*2752G>A
ENST00000682589.1:n.9203G>A
ENST00000682755.1:c.3104G>A	ENSP00000507660.1:p.Ser1035Asn
ENST00000682989.1:c.*417G>A	ENSP00000507786.1:n.*417G>A
ENST00000683039.1:c.3326G>A	ENSP00000508303.1:p.Ser1109Asn
ENST00000683235.1:c.*741G>A	ENSP00000507646.1:n.*741G>A
ENST00000683535.1:n.1456G>A
ENST00000684584.1:c.2489G>A	ENSP00000508044.1:p.Ser830Asn
ENST00000684626.1:n.1572G>A
ENST00000684769.1:c.1516G>A	ENSP00000507691.1:n.1516G>A
ENST00000259008.7:c.3326G>A MANE Select	ENSP00000259008.2:p.Ser1109Asn
ENST00000259008.6:c.3326G>A	ENSP00000259008.2:p.Ser1109Asn
NM_032043.2:c.3326G>A , LRG_300t1:c.3326G>A	NP_114432.2:p.Ser1109Asn
XM_011525332.1:c.3386G>A	XP_011523634.1:p.Ser1129Asn
XM_011525333.1:c.3386G>A	XP_011523635.1:p.Ser1129Asn
XM_011525334.1:c.3386G>A	XP_011523636.1:p.Ser1129Asn
XM_011525335.1:c.3326G>A	XP_011523637.1:p.Ser1109Asn
XM_011525336.1:c.3266G>A	XP_011523638.1:p.Ser1089Asn
XM_011525337.1:c.3185G>A	XP_011523639.1:p.Ser1062Asn
XM_011525338.1:c.2903G>A	XP_011523640.1:p.Ser968Asn
XM_011525332.3:c.3386G>A	XP_011523634.1:p.Ser1129Asn
XM_011525333.3:c.3386G>A	XP_011523635.1:p.Ser1129Asn
XM_011525334.2:c.3386G>A	XP_011523636.1:p.Ser1129Asn
XM_011525335.3:c.3326G>A	XP_011523637.1:p.Ser1109Asn
XM_011525336.2:c.3266G>A	XP_011523638.1:p.Ser1089Asn
XM_011525337.2:c.3185G>A	XP_011523639.1:p.Ser1062Asn
XM_011525338.2:c.2903G>A	XP_011523640.1:p.Ser968Asn
XM_017025200.1:c.2843G>A	XP_016880689.1:p.Ser948Asn
XM_017025201.1:c.2843G>A	XP_016880690.1:p.Ser948Asn
XM_017025202.1:c.1472G>A	XP_016880691.1:p.Ser491Asn
XM_017025203.1:c.1472G>A	XP_016880692.1:p.Ser491Asn
NM_032043.3:c.3326G>A MANE Select	NP_114432.2:p.Ser1109Asn