Canonical Allele Identifier: CA400482608

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59820417A>G (hg19) ; chr17:g.61743056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743056A>G , CM000679.2:g.61743056A>G	GRCh38
NC_000017.10:g.59820417A>G , CM000679.1:g.59820417A>G	GRCh37
NC_000017.9:g.57175199A>G	NCBI36
NG_007409.2:g.125504T>C , LRG_300:g.125504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2336T>C	ENSP00000463272.2:p.Val779Ala
ENST00000682066.1:c.2466T>C	ENSP00000507191.1:n.2466T>C
ENST00000682073.1:n.1076T>C
ENST00000682433.1:n.1415T>C
ENST00000682453.1:c.2336T>C	ENSP00000506943.1:p.Val779Ala
ENST00000682477.1:c.*1762T>C	ENSP00000507075.1:n.*1762T>C
ENST00000682589.1:n.8213T>C
ENST00000682755.1:c.2114T>C	ENSP00000507660.1:p.Val705Ala
ENST00000682989.1:c.2336T>C	ENSP00000507786.1:p.Val779Ala
ENST00000683039.1:c.2336T>C	ENSP00000508303.1:p.Val779Ala
ENST00000683235.1:c.2336T>C	ENSP00000507646.1:p.Val779Ala
ENST00000683381.1:c.2396T>C	ENSP00000508184.1:p.Val799Ala
ENST00000683535.1:n.466T>C
ENST00000684471.1:n.749T>C
ENST00000684584.1:c.1829T>C	ENSP00000508044.1:p.Val610Ala
ENST00000684769.1:c.401T>C	ENSP00000507691.1:p.Val134Ala
ENST00000259008.7:c.2336T>C MANE Select	ENSP00000259008.2:p.Val779Ala
ENST00000259008.6:c.2336T>C	ENSP00000259008.2:p.Val779Ala
ENST00000577598.5:c.2336T>C	ENSP00000464654.1:p.Val779Ala
ENST00000584322.1:c.319T>C
NM_032043.2:c.2336T>C , LRG_300t1:c.2336T>C	NP_114432.2:p.Val779Ala
XM_011525332.1:c.2396T>C	XP_011523634.1:p.Val799Ala
XM_011525333.1:c.2396T>C	XP_011523635.1:p.Val799Ala
XM_011525334.1:c.2396T>C	XP_011523636.1:p.Val799Ala
XM_011525335.1:c.2336T>C	XP_011523637.1:p.Val779Ala
XM_011525336.1:c.2276T>C	XP_011523638.1:p.Val759Ala
XM_011525337.1:c.2195T>C	XP_011523639.1:p.Val732Ala
XM_011525338.1:c.1913T>C	XP_011523640.1:p.Val638Ala
XM_011525339.1:c.2396T>C	XP_011523641.1:p.Val799Ala
XM_011525340.1:c.2396T>C	XP_011523642.1:p.Val799Ala
XR_934894.1:n.524-1125A>G
XM_011525332.3:c.2396T>C	XP_011523634.1:p.Val799Ala
XM_011525333.3:c.2396T>C	XP_011523635.1:p.Val799Ala
XM_011525334.2:c.2396T>C	XP_011523636.1:p.Val799Ala
XM_011525335.3:c.2336T>C	XP_011523637.1:p.Val779Ala
XM_011525336.2:c.2276T>C	XP_011523638.1:p.Val759Ala
XM_011525337.2:c.2195T>C	XP_011523639.1:p.Val732Ala
XM_011525338.2:c.1913T>C	XP_011523640.1:p.Val638Ala
XM_011525339.3:c.2396T>C	XP_011523641.1:p.Val799Ala
XM_011525340.3:c.2396T>C	XP_011523642.1:p.Val799Ala
XM_017025200.1:c.1853T>C	XP_016880689.1:p.Val618Ala
XM_017025201.1:c.1853T>C	XP_016880690.1:p.Val618Ala
XM_017025202.1:c.482T>C	XP_016880691.1:p.Val161Ala
XM_017025203.1:c.482T>C	XP_016880692.1:p.Val161Ala
NM_032043.3:c.2336T>C MANE Select	NP_114432.2:p.Val779Ala