Canonical Allele Identifier: CA117038

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 4736
• ClinVar RCV Id: RCV000005002 ; RCV000116124 ; RCV000199377 ; RCV000200979 ; RCV000410864 ; RCV000409748 ; RCV000587908 ; RCV000778130 ; RCV000990044 ; RCV001090025 ; RCV003149563
• dbSNP Id: rs28903098
• ExAC: 17:59937223 G / C
• gnomAD v2: 17-59937223-G-C
• gnomAD v3: 17-61859862-G-C
• gnomAD v4: 17-61859862-G-C
• MyVariant Identifiers: chr17:g.59937223G>C (hg19) ; chr17:g.61859862G>C (hg38)
• PubMed: PMID:11301010 ; PMID:12872252 ; PMID:14983014 ; PMID:15855896 ; PMID:15878853 ; PMID:16280053 ; PMID:17033622 ; PMID:17145708 ; PMID:17596542 ; PMID:18426915 ; PMID:18628483 ; PMID:19584272 ; PMID:21345144 ; PMID:21964575 ; PMID:24448499 ; PMID:25374583 ; PMID:25910212 ; PMID:25980754 ; PMID:26206375 ; PMID:26264438 ; PMID:26315354 ; PMID:26556299 ; PMID:26681312 ; PMID:26921362 ; PMID:27498913 ; PMID:27553368 ; PMID:27621404 ; PMID:27978560 ; PMID:28228131

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61859862G>C , CM000679.2:g.61859862G>C	GRCh38
NC_000017.10:g.59937223G>C , CM000679.1:g.59937223G>C	GRCh37
NC_000017.9:g.57292005G>C	NCBI36
NG_007409.2:g.8698C>G , LRG_300:g.8698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.139C>G	ENSP00000462274.2:p.Pro47Ala
ENST00000584322.2:c.139C>G	ENSP00000463272.2:p.Pro47Ala
ENST00000682369.1:c.139C>G	ENSP00000507450.1:p.Pro47Ala
ENST00000682453.1:c.139C>G	ENSP00000506943.1:p.Pro47Ala
ENST00000682477.1:c.139C>G	ENSP00000507075.1:p.Pro47Ala
ENST00000682589.1:n.1880C>G
ENST00000682755.1:c.139C>G	ENSP00000507660.1:p.Pro47Ala
ENST00000682989.1:c.139C>G	ENSP00000507786.1:p.Pro47Ala
ENST00000683039.1:c.139C>G	ENSP00000508303.1:p.Pro47Ala
ENST00000683235.1:c.139C>G	ENSP00000507646.1:p.Pro47Ala
ENST00000683381.1:c.139C>G	ENSP00000508184.1:p.Pro47Ala
ENST00000683672.1:c.-92-2631C>G	ENSP00000506781.1:n.-92-2631C>G
ENST00000259008.7:c.139C>G MANE Select	ENSP00000259008.2:p.Pro47Ala
ENST00000259008.6:c.139C>G	ENSP00000259008.2:p.Pro47Ala
ENST00000577598.5:c.139C>G	ENSP00000464654.1:p.Pro47Ala
ENST00000577913.1:c.139C>G	ENSP00000462274.1:p.Pro47Ala
NM_032043.2:c.139C>G , LRG_300t1:c.139C>G	NP_114432.2:p.Pro47Ala
XM_011525332.1:c.139C>G	XP_011523634.1:p.Pro47Ala
XM_011525333.1:c.139C>G	XP_011523635.1:p.Pro47Ala
XM_011525334.1:c.139C>G	XP_011523636.1:p.Pro47Ala
XM_011525335.1:c.139C>G	XP_011523637.1:p.Pro47Ala
XM_011525336.1:c.139C>G	XP_011523638.1:p.Pro47Ala
XM_011525337.1:c.139C>G	XP_011523639.1:p.Pro47Ala
XM_011525339.1:c.139C>G	XP_011523641.1:p.Pro47Ala
XM_011525340.1:c.139C>G	XP_011523642.1:p.Pro47Ala
XM_011525341.1:c.139C>G	XP_011523643.1:p.Pro47Ala
XM_011525332.3:c.139C>G	XP_011523634.1:p.Pro47Ala
XM_011525333.3:c.139C>G	XP_011523635.1:p.Pro47Ala
XM_011525334.2:c.139C>G	XP_011523636.1:p.Pro47Ala
XM_011525335.3:c.139C>G	XP_011523637.1:p.Pro47Ala
XM_011525336.2:c.139C>G	XP_011523638.1:p.Pro47Ala
XM_011525337.2:c.139C>G	XP_011523639.1:p.Pro47Ala
XM_011525339.3:c.139C>G	XP_011523641.1:p.Pro47Ala
XM_011525340.3:c.139C>G	XP_011523642.1:p.Pro47Ala
XM_011525341.3:c.139C>G	XP_011523643.1:p.Pro47Ala
NM_032043.3:c.139C>G MANE Select	NP_114432.2:p.Pro47Ala