Canonical Allele Identifier: CA400478930

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2630713
• ClinVar RCV Id: RCV003778226 ; RCV004527917
• gnomAD v4: 17-61683700-T-C
• MyVariant Identifiers: chr17:g.59761061T>C (hg19) ; chr17:g.61683700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683700T>C , CM000679.2:g.61683700T>C	GRCh38
NC_000017.10:g.59761061T>C , CM000679.1:g.59761061T>C	GRCh37
NC_000017.9:g.57115843T>C	NCBI36
NG_007409.2:g.184860A>G , LRG_300:g.184860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2086A>G
ENST00000682453.1:c.3346A>G	ENSP00000506943.1:p.Thr1116Ala
ENST00000682477.1:c.*2772A>G	ENSP00000507075.1:n.*2772A>G
ENST00000682589.1:n.9223A>G
ENST00000682755.1:c.3124A>G	ENSP00000507660.1:p.Thr1042Ala
ENST00000682989.1:c.*437A>G	ENSP00000507786.1:n.*437A>G
ENST00000683039.1:c.3346A>G	ENSP00000508303.1:p.Thr1116Ala
ENST00000683235.1:c.*761A>G	ENSP00000507646.1:n.*761A>G
ENST00000683535.1:n.1476A>G
ENST00000684584.1:c.2509A>G	ENSP00000508044.1:p.Thr837Ala
ENST00000684626.1:n.1592A>G
ENST00000684769.1:c.1536A>G	ENSP00000507691.1:n.1536A>G
ENST00000259008.7:c.3346A>G MANE Select	ENSP00000259008.2:p.Thr1116Ala
ENST00000259008.6:c.3346A>G	ENSP00000259008.2:p.Thr1116Ala
NM_032043.2:c.3346A>G , LRG_300t1:c.3346A>G	NP_114432.2:p.Thr1116Ala
XM_011525332.1:c.3406A>G	XP_011523634.1:p.Thr1136Ala
XM_011525333.1:c.3406A>G	XP_011523635.1:p.Thr1136Ala
XM_011525334.1:c.3406A>G	XP_011523636.1:p.Thr1136Ala
XM_011525335.1:c.3346A>G	XP_011523637.1:p.Thr1116Ala
XM_011525336.1:c.3286A>G	XP_011523638.1:p.Thr1096Ala
XM_011525337.1:c.3205A>G	XP_011523639.1:p.Thr1069Ala
XM_011525338.1:c.2923A>G	XP_011523640.1:p.Thr975Ala
XM_011525332.3:c.3406A>G	XP_011523634.1:p.Thr1136Ala
XM_011525333.3:c.3406A>G	XP_011523635.1:p.Thr1136Ala
XM_011525334.2:c.3406A>G	XP_011523636.1:p.Thr1136Ala
XM_011525335.3:c.3346A>G	XP_011523637.1:p.Thr1116Ala
XM_011525336.2:c.3286A>G	XP_011523638.1:p.Thr1096Ala
XM_011525337.2:c.3205A>G	XP_011523639.1:p.Thr1069Ala
XM_011525338.2:c.2923A>G	XP_011523640.1:p.Thr975Ala
XM_017025200.1:c.2863A>G	XP_016880689.1:p.Thr955Ala
XM_017025201.1:c.2863A>G	XP_016880690.1:p.Thr955Ala
XM_017025202.1:c.1492A>G	XP_016880691.1:p.Thr498Ala
XM_017025203.1:c.1492A>G	XP_016880692.1:p.Thr498Ala
NM_032043.3:c.3346A>G MANE Select	NP_114432.2:p.Thr1116Ala