Canonical Allele Identifier: CA400482554

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144675591
• MyVariant Identifiers: chr17:g.59820391T>A (hg19) ; chr17:g.61743030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743030T>A , CM000679.2:g.61743030T>A	GRCh38
NC_000017.10:g.59820391T>A , CM000679.1:g.59820391T>A	GRCh37
NC_000017.9:g.57175173T>A	NCBI36
NG_007409.2:g.125530A>T , LRG_300:g.125530A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2362A>T	ENSP00000463272.2:p.Asn788Tyr
ENST00000682066.1:c.2492A>T	ENSP00000507191.1:n.2492A>T
ENST00000682073.1:n.1102A>T
ENST00000682433.1:n.1441A>T
ENST00000682453.1:c.2362A>T	ENSP00000506943.1:p.Asn788Tyr
ENST00000682477.1:c.*1788A>T	ENSP00000507075.1:n.*1788A>T
ENST00000682589.1:n.8239A>T
ENST00000682755.1:c.2140A>T	ENSP00000507660.1:p.Asn714Tyr
ENST00000682989.1:c.2362A>T	ENSP00000507786.1:p.Asn788Tyr
ENST00000683039.1:c.2362A>T	ENSP00000508303.1:p.Asn788Tyr
ENST00000683235.1:c.2362A>T	ENSP00000507646.1:p.Asn788Tyr
ENST00000683381.1:c.2422A>T	ENSP00000508184.1:p.Asn808Tyr
ENST00000683535.1:n.492A>T
ENST00000684471.1:n.775A>T
ENST00000684584.1:c.1855A>T	ENSP00000508044.1:p.Asn619Tyr
ENST00000684769.1:c.427A>T	ENSP00000507691.1:p.Asn143Tyr
ENST00000259008.7:c.2362A>T MANE Select	ENSP00000259008.2:p.Asn788Tyr
ENST00000259008.6:c.2362A>T	ENSP00000259008.2:p.Asn788Tyr
ENST00000577598.5:c.2362A>T	ENSP00000464654.1:p.Asn788Tyr
ENST00000584322.1:c.345A>T
NM_032043.2:c.2362A>T , LRG_300t1:c.2362A>T	NP_114432.2:p.Asn788Tyr
XM_011525332.1:c.2422A>T	XP_011523634.1:p.Asn808Tyr
XM_011525333.1:c.2422A>T	XP_011523635.1:p.Asn808Tyr
XM_011525334.1:c.2422A>T	XP_011523636.1:p.Asn808Tyr
XM_011525335.1:c.2362A>T	XP_011523637.1:p.Asn788Tyr
XM_011525336.1:c.2302A>T	XP_011523638.1:p.Asn768Tyr
XM_011525337.1:c.2221A>T	XP_011523639.1:p.Asn741Tyr
XM_011525338.1:c.1939A>T	XP_011523640.1:p.Asn647Tyr
XM_011525339.1:c.2422A>T	XP_011523641.1:p.Asn808Tyr
XM_011525340.1:c.2422A>T	XP_011523642.1:p.Asn808Tyr
XR_934894.1:n.524-1151T>A
XM_011525332.3:c.2422A>T	XP_011523634.1:p.Asn808Tyr
XM_011525333.3:c.2422A>T	XP_011523635.1:p.Asn808Tyr
XM_011525334.2:c.2422A>T	XP_011523636.1:p.Asn808Tyr
XM_011525335.3:c.2362A>T	XP_011523637.1:p.Asn788Tyr
XM_011525336.2:c.2302A>T	XP_011523638.1:p.Asn768Tyr
XM_011525337.2:c.2221A>T	XP_011523639.1:p.Asn741Tyr
XM_011525338.2:c.1939A>T	XP_011523640.1:p.Asn647Tyr
XM_011525339.3:c.2422A>T	XP_011523641.1:p.Asn808Tyr
XM_011525340.3:c.2422A>T	XP_011523642.1:p.Asn808Tyr
XM_017025200.1:c.1879A>T	XP_016880689.1:p.Asn627Tyr
XM_017025201.1:c.1879A>T	XP_016880690.1:p.Asn627Tyr
XM_017025202.1:c.508A>T	XP_016880691.1:p.Asn170Tyr
XM_017025203.1:c.508A>T	XP_016880692.1:p.Asn170Tyr
NM_032043.3:c.2362A>T MANE Select	NP_114432.2:p.Asn788Tyr