Canonical Allele Identifier: CA400478549

Gene: BRIP1

Linked Data

• dbSNP Id: rs771889454
• gnomAD v4: 17-61683553-T-C
• MyVariant Identifiers: chr17:g.59760914T>C (hg19) ; chr17:g.61683553T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2233A>G
ENST00000682453.1:c.3493A>G	ENSP00000506943.1:p.Ile1165Val
ENST00000682477.1:c.*2919A>G	ENSP00000507075.1:n.*2919A>G
ENST00000682589.1:n.9370A>G
ENST00000682755.1:c.3271A>G	ENSP00000507660.1:p.Ile1091Val
ENST00000682989.1:c.*584A>G	ENSP00000507786.1:n.*584A>G
ENST00000683039.1:c.3493A>G	ENSP00000508303.1:p.Ile1165Val
ENST00000683235.1:c.*908A>G	ENSP00000507646.1:n.*908A>G
ENST00000683535.1:n.1623A>G
ENST00000684584.1:c.2656A>G	ENSP00000508044.1:p.Ile886Val
ENST00000684626.1:n.1739A>G
ENST00000684769.1:c.1683A>G	ENSP00000507691.1:n.1683A>G
ENST00000259008.7:c.3493A>G MANE Select	ENSP00000259008.2:p.Ile1165Val
ENST00000259008.6:c.3493A>G	ENSP00000259008.2:p.Ile1165Val
NM_032043.2:c.3493A>G , LRG_300t1:c.3493A>G	NP_114432.2:p.Ile1165Val
XM_011525332.1:c.3553A>G	XP_011523634.1:p.Ile1185Val
XM_011525333.1:c.3553A>G	XP_011523635.1:p.Ile1185Val
XM_011525334.1:c.3553A>G	XP_011523636.1:p.Ile1185Val
XM_011525335.1:c.3493A>G	XP_011523637.1:p.Ile1165Val
XM_011525336.1:c.3433A>G	XP_011523638.1:p.Ile1145Val
XM_011525337.1:c.3352A>G	XP_011523639.1:p.Ile1118Val
XM_011525338.1:c.3070A>G	XP_011523640.1:p.Ile1024Val
XM_011525332.3:c.3553A>G	XP_011523634.1:p.Ile1185Val
XM_011525333.3:c.3553A>G	XP_011523635.1:p.Ile1185Val
XM_011525334.2:c.3553A>G	XP_011523636.1:p.Ile1185Val
XM_011525335.3:c.3493A>G	XP_011523637.1:p.Ile1165Val
XM_011525336.2:c.3433A>G	XP_011523638.1:p.Ile1145Val
XM_011525337.2:c.3352A>G	XP_011523639.1:p.Ile1118Val
XM_011525338.2:c.3070A>G	XP_011523640.1:p.Ile1024Val
XM_017025200.1:c.3010A>G	XP_016880689.1:p.Ile1004Val
XM_017025201.1:c.3010A>G	XP_016880690.1:p.Ile1004Val
XM_017025202.1:c.1639A>G	XP_016880691.1:p.Ile547Val
XM_017025203.1:c.1639A>G	XP_016880692.1:p.Ile547Val
NM_032043.3:c.3493A>G MANE Select	NP_114432.2:p.Ile1165Val