Canonical Allele Identifier: CA400478628

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144074690
• MyVariant Identifiers: chr17:g.59760933C>A (hg19) ; chr17:g.61683572C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683572C>A , CM000679.2:g.61683572C>A	GRCh38
NC_000017.10:g.59760933C>A , CM000679.1:g.59760933C>A	GRCh37
NC_000017.9:g.57115715C>A	NCBI36
NG_007409.2:g.184988G>T , LRG_300:g.184988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2214G>T
ENST00000682453.1:c.3474G>T	ENSP00000506943.1:p.Leu1158Phe
ENST00000682477.1:c.*2900G>T	ENSP00000507075.1:n.*2900G>T
ENST00000682589.1:n.9351G>T
ENST00000682755.1:c.3252G>T	ENSP00000507660.1:p.Leu1084Phe
ENST00000682989.1:c.*565G>T	ENSP00000507786.1:n.*565G>T
ENST00000683039.1:c.3474G>T	ENSP00000508303.1:p.Leu1158Phe
ENST00000683235.1:c.*889G>T	ENSP00000507646.1:n.*889G>T
ENST00000683535.1:n.1604G>T
ENST00000684584.1:c.2637G>T	ENSP00000508044.1:p.Leu879Phe
ENST00000684626.1:n.1720G>T
ENST00000684769.1:c.1664G>T	ENSP00000507691.1:n.1664G>T
ENST00000259008.7:c.3474G>T MANE Select	ENSP00000259008.2:p.Leu1158Phe
ENST00000259008.6:c.3474G>T	ENSP00000259008.2:p.Leu1158Phe
NM_032043.2:c.3474G>T , LRG_300t1:c.3474G>T	NP_114432.2:p.Leu1158Phe
XM_011525332.1:c.3534G>T	XP_011523634.1:p.Leu1178Phe
XM_011525333.1:c.3534G>T	XP_011523635.1:p.Leu1178Phe
XM_011525334.1:c.3534G>T	XP_011523636.1:p.Leu1178Phe
XM_011525335.1:c.3474G>T	XP_011523637.1:p.Leu1158Phe
XM_011525336.1:c.3414G>T	XP_011523638.1:p.Leu1138Phe
XM_011525337.1:c.3333G>T	XP_011523639.1:p.Leu1111Phe
XM_011525338.1:c.3051G>T	XP_011523640.1:p.Leu1017Phe
XM_011525332.3:c.3534G>T	XP_011523634.1:p.Leu1178Phe
XM_011525333.3:c.3534G>T	XP_011523635.1:p.Leu1178Phe
XM_011525334.2:c.3534G>T	XP_011523636.1:p.Leu1178Phe
XM_011525335.3:c.3474G>T	XP_011523637.1:p.Leu1158Phe
XM_011525336.2:c.3414G>T	XP_011523638.1:p.Leu1138Phe
XM_011525337.2:c.3333G>T	XP_011523639.1:p.Leu1111Phe
XM_011525338.2:c.3051G>T	XP_011523640.1:p.Leu1017Phe
XM_017025200.1:c.2991G>T	XP_016880689.1:p.Leu997Phe
XM_017025201.1:c.2991G>T	XP_016880690.1:p.Leu997Phe
XM_017025202.1:c.1620G>T	XP_016880691.1:p.Leu540Phe
XM_017025203.1:c.1620G>T	XP_016880692.1:p.Leu540Phe
NM_032043.3:c.3474G>T MANE Select	NP_114432.2:p.Leu1158Phe