Canonical Allele Identifier: CA501335040

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 996242
• ClinVar RCV Id: RCV001290565 ; RCV002070111
• dbSNP Id: rs2061308538
• MyVariant Identifiers: chr17:g.59761005A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683644A>C , CM000679.2:g.61683644A>C	GRCh38
NC_000017.10:g.59761005A>C , CM000679.1:g.59761005A>C	GRCh37
NC_000017.9:g.57115787A>C	NCBI36
NG_007409.2:g.184916T>G , LRG_300:g.184916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2142T>G
ENST00000682453.1:c.3402T>G	ENSP00000506943.1:p.Pro1134=
ENST00000682477.1:c.*2828T>G	ENSP00000507075.1:n.*2828T>G
ENST00000682589.1:n.9279T>G
ENST00000682755.1:c.3180T>G	ENSP00000507660.1:p.Pro1060=
ENST00000682989.1:c.*493T>G	ENSP00000507786.1:n.*493T>G
ENST00000683039.1:c.3402T>G	ENSP00000508303.1:p.Pro1134=
ENST00000683235.1:c.*817T>G	ENSP00000507646.1:n.*817T>G
ENST00000683535.1:n.1532T>G
ENST00000684584.1:c.2565T>G	ENSP00000508044.1:p.Pro855=
ENST00000684626.1:n.1648T>G
ENST00000684769.1:c.1592T>G	ENSP00000507691.1:n.1592T>G
ENST00000259008.7:c.3402T>G MANE Select	ENSP00000259008.2:p.Pro1134=
ENST00000259008.6:c.3402T>G	ENSP00000259008.2:p.Pro1134=
NM_032043.2:c.3402T>G , LRG_300t1:c.3402T>G	NP_114432.2:p.Pro1134=
XM_011525332.1:c.3462T>G	XP_011523634.1:p.Pro1154=
XM_011525333.1:c.3462T>G	XP_011523635.1:p.Pro1154=
XM_011525334.1:c.3462T>G	XP_011523636.1:p.Pro1154=
XM_011525335.1:c.3402T>G	XP_011523637.1:p.Pro1134=
XM_011525336.1:c.3342T>G	XP_011523638.1:p.Pro1114=
XM_011525337.1:c.3261T>G	XP_011523639.1:p.Pro1087=
XM_011525338.1:c.2979T>G	XP_011523640.1:p.Pro993=
XM_011525332.3:c.3462T>G	XP_011523634.1:p.Pro1154=
XM_011525333.3:c.3462T>G	XP_011523635.1:p.Pro1154=
XM_011525334.2:c.3462T>G	XP_011523636.1:p.Pro1154=
XM_011525335.3:c.3402T>G	XP_011523637.1:p.Pro1134=
XM_011525336.2:c.3342T>G	XP_011523638.1:p.Pro1114=
XM_011525337.2:c.3261T>G	XP_011523639.1:p.Pro1087=
XM_011525338.2:c.2979T>G	XP_011523640.1:p.Pro993=
XM_017025200.1:c.2919T>G	XP_016880689.1:p.Pro973=
XM_017025201.1:c.2919T>G	XP_016880690.1:p.Pro973=
XM_017025202.1:c.1548T>G	XP_016880691.1:p.Pro516=
XM_017025203.1:c.1548T>G	XP_016880692.1:p.Pro516=
NM_032043.3:c.3402T>G MANE Select	NP_114432.2:p.Pro1134=