Canonical Allele Identifier: CA400481621

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 993098
• ClinVar RCV Id: RCV001284116
• dbSNP Id: rs2061356129
• MyVariant Identifiers: chr17:g.59763357C>G (hg19) ; chr17:g.61685996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685996C>G , CM000679.2:g.61685996C>G	GRCh38
NC_000017.10:g.59763357C>G , CM000679.1:g.59763357C>G	GRCh37
NC_000017.9:g.57118139C>G	NCBI36
NG_007409.2:g.182564G>C , LRG_300:g.182564G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2875G>C	ENSP00000507191.1:n.2875G>C
ENST00000682073.1:n.1485G>C
ENST00000682433.1:n.1824G>C
ENST00000682453.1:c.2745G>C	ENSP00000506943.1:p.Lys915Asn
ENST00000682477.1:c.*2171G>C	ENSP00000507075.1:n.*2171G>C
ENST00000682589.1:n.8622G>C
ENST00000682755.1:c.2523G>C	ENSP00000507660.1:p.Lys841Asn
ENST00000682989.1:c.2610-1856G>C	ENSP00000507786.1:n.2610-1856G>C
ENST00000683039.1:c.2745G>C	ENSP00000508303.1:p.Lys915Asn
ENST00000683235.1:c.*160G>C	ENSP00000507646.1:n.*160G>C
ENST00000683535.1:n.875G>C
ENST00000684471.1:n.1158G>C
ENST00000684584.1:c.2069-1856G>C	ENSP00000508044.1:n.2069-1856G>C
ENST00000684626.1:n.991G>C
ENST00000684769.1:c.935G>C	ENSP00000507691.1:n.935G>C
ENST00000259008.7:c.2745G>C MANE Select	ENSP00000259008.2:p.Lys915Asn
ENST00000259008.6:c.2745G>C	ENSP00000259008.2:p.Lys915Asn
ENST00000577598.5:c.2745G>C	ENSP00000464654.1:p.Lys915Asn
NM_032043.2:c.2745G>C , LRG_300t1:c.2745G>C	NP_114432.2:p.Lys915Asn
XM_011525332.1:c.2805G>C	XP_011523634.1:p.Lys935Asn
XM_011525333.1:c.2805G>C	XP_011523635.1:p.Lys935Asn
XM_011525334.1:c.2805G>C	XP_011523636.1:p.Lys935Asn
XM_011525335.1:c.2745G>C	XP_011523637.1:p.Lys915Asn
XM_011525336.1:c.2685G>C	XP_011523638.1:p.Lys895Asn
XM_011525337.1:c.2604G>C	XP_011523639.1:p.Lys868Asn
XM_011525338.1:c.2322G>C	XP_011523640.1:p.Lys774Asn
XM_011525332.3:c.2805G>C	XP_011523634.1:p.Lys935Asn
XM_011525333.3:c.2805G>C	XP_011523635.1:p.Lys935Asn
XM_011525334.2:c.2805G>C	XP_011523636.1:p.Lys935Asn
XM_011525335.3:c.2745G>C	XP_011523637.1:p.Lys915Asn
XM_011525336.2:c.2685G>C	XP_011523638.1:p.Lys895Asn
XM_011525337.2:c.2604G>C	XP_011523639.1:p.Lys868Asn
XM_011525338.2:c.2322G>C	XP_011523640.1:p.Lys774Asn
XM_017025200.1:c.2262G>C	XP_016880689.1:p.Lys754Asn
XM_017025201.1:c.2262G>C	XP_016880690.1:p.Lys754Asn
XM_017025202.1:c.891G>C	XP_016880691.1:p.Lys297Asn
XM_017025203.1:c.891G>C	XP_016880692.1:p.Lys297Asn
NM_032043.3:c.2745G>C MANE Select	NP_114432.2:p.Lys915Asn