Canonical Allele Identifier: CA400478547

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 864404
• ClinVar RCV Id: RCV001071590
• dbSNP Id: rs771889454
• MyVariant Identifiers: chr17:g.59760914T>A (hg19) ; chr17:g.61683553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683553T>A , CM000679.2:g.61683553T>A	GRCh38
NC_000017.10:g.59760914T>A , CM000679.1:g.59760914T>A	GRCh37
NC_000017.9:g.57115696T>A	NCBI36
NG_007409.2:g.185007A>T , LRG_300:g.185007A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2233A>T
ENST00000682453.1:c.3493A>T	ENSP00000506943.1:p.Ile1165Phe
ENST00000682477.1:c.*2919A>T	ENSP00000507075.1:n.*2919A>T
ENST00000682589.1:n.9370A>T
ENST00000682755.1:c.3271A>T	ENSP00000507660.1:p.Ile1091Phe
ENST00000682989.1:c.*584A>T	ENSP00000507786.1:n.*584A>T
ENST00000683039.1:c.3493A>T	ENSP00000508303.1:p.Ile1165Phe
ENST00000683235.1:c.*908A>T	ENSP00000507646.1:n.*908A>T
ENST00000683535.1:n.1623A>T
ENST00000684584.1:c.2656A>T	ENSP00000508044.1:p.Ile886Phe
ENST00000684626.1:n.1739A>T
ENST00000684769.1:c.1683A>T	ENSP00000507691.1:n.1683A>T
ENST00000259008.7:c.3493A>T MANE Select	ENSP00000259008.2:p.Ile1165Phe
ENST00000259008.6:c.3493A>T	ENSP00000259008.2:p.Ile1165Phe
NM_032043.2:c.3493A>T , LRG_300t1:c.3493A>T	NP_114432.2:p.Ile1165Phe
XM_011525332.1:c.3553A>T	XP_011523634.1:p.Ile1185Phe
XM_011525333.1:c.3553A>T	XP_011523635.1:p.Ile1185Phe
XM_011525334.1:c.3553A>T	XP_011523636.1:p.Ile1185Phe
XM_011525335.1:c.3493A>T	XP_011523637.1:p.Ile1165Phe
XM_011525336.1:c.3433A>T	XP_011523638.1:p.Ile1145Phe
XM_011525337.1:c.3352A>T	XP_011523639.1:p.Ile1118Phe
XM_011525338.1:c.3070A>T	XP_011523640.1:p.Ile1024Phe
XM_011525332.3:c.3553A>T	XP_011523634.1:p.Ile1185Phe
XM_011525333.3:c.3553A>T	XP_011523635.1:p.Ile1185Phe
XM_011525334.2:c.3553A>T	XP_011523636.1:p.Ile1185Phe
XM_011525335.3:c.3493A>T	XP_011523637.1:p.Ile1165Phe
XM_011525336.2:c.3433A>T	XP_011523638.1:p.Ile1145Phe
XM_011525337.2:c.3352A>T	XP_011523639.1:p.Ile1118Phe
XM_011525338.2:c.3070A>T	XP_011523640.1:p.Ile1024Phe
XM_017025200.1:c.3010A>T	XP_016880689.1:p.Ile1004Phe
XM_017025201.1:c.3010A>T	XP_016880690.1:p.Ile1004Phe
XM_017025202.1:c.1639A>T	XP_016880691.1:p.Ile547Phe
XM_017025203.1:c.1639A>T	XP_016880692.1:p.Ile547Phe
NM_032043.3:c.3493A>T MANE Select	NP_114432.2:p.Ile1165Phe