Canonical Allele Identifier: CA400479450

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1036605
• ClinVar RCV Id: RCV001339642
• dbSNP Id: rs2061317850
• MyVariant Identifiers: chr17:g.59761236A>C (hg19) ; chr17:g.61683875A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683875A>C , CM000679.2:g.61683875A>C	GRCh38
NC_000017.10:g.59761236A>C , CM000679.1:g.59761236A>C	GRCh37
NC_000017.9:g.57116018A>C	NCBI36
NG_007409.2:g.184685T>G , LRG_300:g.184685T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1911T>G
ENST00000682453.1:c.3171T>G	ENSP00000506943.1:p.Asn1057Lys
ENST00000682477.1:c.*2597T>G	ENSP00000507075.1:n.*2597T>G
ENST00000682589.1:n.9048T>G
ENST00000682755.1:c.2949T>G	ENSP00000507660.1:p.Asn983Lys
ENST00000682989.1:c.*262T>G	ENSP00000507786.1:n.*262T>G
ENST00000683039.1:c.3171T>G	ENSP00000508303.1:p.Asn1057Lys
ENST00000683235.1:c.*586T>G	ENSP00000507646.1:n.*586T>G
ENST00000683535.1:n.1301T>G
ENST00000684584.1:c.2334T>G	ENSP00000508044.1:p.Asn778Lys
ENST00000684626.1:n.1417T>G
ENST00000684769.1:c.1361T>G	ENSP00000507691.1:n.1361T>G
ENST00000259008.7:c.3171T>G MANE Select	ENSP00000259008.2:p.Asn1057Lys
ENST00000259008.6:c.3171T>G	ENSP00000259008.2:p.Asn1057Lys
NM_032043.2:c.3171T>G , LRG_300t1:c.3171T>G	NP_114432.2:p.Asn1057Lys
XM_011525332.1:c.3231T>G	XP_011523634.1:p.Asn1077Lys
XM_011525333.1:c.3231T>G	XP_011523635.1:p.Asn1077Lys
XM_011525334.1:c.3231T>G	XP_011523636.1:p.Asn1077Lys
XM_011525335.1:c.3171T>G	XP_011523637.1:p.Asn1057Lys
XM_011525336.1:c.3111T>G	XP_011523638.1:p.Asn1037Lys
XM_011525337.1:c.3030T>G	XP_011523639.1:p.Asn1010Lys
XM_011525338.1:c.2748T>G	XP_011523640.1:p.Asn916Lys
XM_011525332.3:c.3231T>G	XP_011523634.1:p.Asn1077Lys
XM_011525333.3:c.3231T>G	XP_011523635.1:p.Asn1077Lys
XM_011525334.2:c.3231T>G	XP_011523636.1:p.Asn1077Lys
XM_011525335.3:c.3171T>G	XP_011523637.1:p.Asn1057Lys
XM_011525336.2:c.3111T>G	XP_011523638.1:p.Asn1037Lys
XM_011525337.2:c.3030T>G	XP_011523639.1:p.Asn1010Lys
XM_011525338.2:c.2748T>G	XP_011523640.1:p.Asn916Lys
XM_017025200.1:c.2688T>G	XP_016880689.1:p.Asn896Lys
XM_017025201.1:c.2688T>G	XP_016880690.1:p.Asn896Lys
XM_017025202.1:c.1317T>G	XP_016880691.1:p.Asn439Lys
XM_017025203.1:c.1317T>G	XP_016880692.1:p.Asn439Lys
NM_032043.3:c.3171T>G MANE Select	NP_114432.2:p.Asn1057Lys