Canonical Allele Identifier: CA400482539

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59820383T>G (hg19) ; chr17:g.61743022T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743022T>G , CM000679.2:g.61743022T>G	GRCh38
NC_000017.10:g.59820383T>G , CM000679.1:g.59820383T>G	GRCh37
NC_000017.9:g.57175165T>G	NCBI36
NG_007409.2:g.125538A>C , LRG_300:g.125538A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2370A>C	ENSP00000463272.2:p.Lys790Asn
ENST00000682066.1:c.2500A>C	ENSP00000507191.1:n.2500A>C
ENST00000682073.1:n.1110A>C
ENST00000682433.1:n.1449A>C
ENST00000682453.1:c.2370A>C	ENSP00000506943.1:p.Lys790Asn
ENST00000682477.1:c.*1796A>C	ENSP00000507075.1:n.*1796A>C
ENST00000682589.1:n.8247A>C
ENST00000682755.1:c.2148A>C	ENSP00000507660.1:p.Lys716Asn
ENST00000682989.1:c.2370A>C	ENSP00000507786.1:p.Lys790Asn
ENST00000683039.1:c.2370A>C	ENSP00000508303.1:p.Lys790Asn
ENST00000683235.1:c.2370A>C	ENSP00000507646.1:p.Lys790Asn
ENST00000683381.1:c.2430A>C	ENSP00000508184.1:p.Lys810Asn
ENST00000683535.1:n.500A>C
ENST00000684471.1:n.783A>C
ENST00000684584.1:c.1863A>C	ENSP00000508044.1:p.Lys621Asn
ENST00000684769.1:c.435A>C	ENSP00000507691.1:p.Lys145Asn
ENST00000259008.7:c.2370A>C MANE Select	ENSP00000259008.2:p.Lys790Asn
ENST00000259008.6:c.2370A>C	ENSP00000259008.2:p.Lys790Asn
ENST00000577598.5:c.2370A>C	ENSP00000464654.1:p.Lys790Asn
ENST00000584322.1:c.353A>C
NM_032043.2:c.2370A>C , LRG_300t1:c.2370A>C	NP_114432.2:p.Lys790Asn
XM_011525332.1:c.2430A>C	XP_011523634.1:p.Lys810Asn
XM_011525333.1:c.2430A>C	XP_011523635.1:p.Lys810Asn
XM_011525334.1:c.2430A>C	XP_011523636.1:p.Lys810Asn
XM_011525335.1:c.2370A>C	XP_011523637.1:p.Lys790Asn
XM_011525336.1:c.2310A>C	XP_011523638.1:p.Lys770Asn
XM_011525337.1:c.2229A>C	XP_011523639.1:p.Lys743Asn
XM_011525338.1:c.1947A>C	XP_011523640.1:p.Lys649Asn
XM_011525339.1:c.2430A>C	XP_011523641.1:p.Lys810Asn
XM_011525340.1:c.2430A>C	XP_011523642.1:p.Lys810Asn
XR_934894.1:n.524-1159T>G
XM_011525332.3:c.2430A>C	XP_011523634.1:p.Lys810Asn
XM_011525333.3:c.2430A>C	XP_011523635.1:p.Lys810Asn
XM_011525334.2:c.2430A>C	XP_011523636.1:p.Lys810Asn
XM_011525335.3:c.2370A>C	XP_011523637.1:p.Lys790Asn
XM_011525336.2:c.2310A>C	XP_011523638.1:p.Lys770Asn
XM_011525337.2:c.2229A>C	XP_011523639.1:p.Lys743Asn
XM_011525338.2:c.1947A>C	XP_011523640.1:p.Lys649Asn
XM_011525339.3:c.2430A>C	XP_011523641.1:p.Lys810Asn
XM_011525340.3:c.2430A>C	XP_011523642.1:p.Lys810Asn
XM_017025200.1:c.1887A>C	XP_016880689.1:p.Lys629Asn
XM_017025201.1:c.1887A>C	XP_016880690.1:p.Lys629Asn
XM_017025202.1:c.516A>C	XP_016880691.1:p.Lys172Asn
XM_017025203.1:c.516A>C	XP_016880692.1:p.Lys172Asn
NM_032043.3:c.2370A>C MANE Select	NP_114432.2:p.Lys790Asn