Canonical Allele Identifier: CA400478793

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 858986
• ClinVar RCV Id: RCV001064987 ; RCV001357702
• dbSNP Id: rs2061308195
• MyVariant Identifiers: chr17:g.59760998A>G (hg19) ; chr17:g.61683637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683637A>G , CM000679.2:g.61683637A>G	GRCh38
NC_000017.10:g.59760998A>G , CM000679.1:g.59760998A>G	GRCh37
NC_000017.9:g.57115780A>G	NCBI36
NG_007409.2:g.184923T>C , LRG_300:g.184923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2149T>C
ENST00000682453.1:c.3409T>C	ENSP00000506943.1:p.Tyr1137His
ENST00000682477.1:c.*2835T>C	ENSP00000507075.1:n.*2835T>C
ENST00000682589.1:n.9286T>C
ENST00000682755.1:c.3187T>C	ENSP00000507660.1:p.Tyr1063His
ENST00000682989.1:c.*500T>C	ENSP00000507786.1:n.*500T>C
ENST00000683039.1:c.3409T>C	ENSP00000508303.1:p.Tyr1137His
ENST00000683235.1:c.*824T>C	ENSP00000507646.1:n.*824T>C
ENST00000683535.1:n.1539T>C
ENST00000684584.1:c.2572T>C	ENSP00000508044.1:p.Tyr858His
ENST00000684626.1:n.1655T>C
ENST00000684769.1:c.1599T>C	ENSP00000507691.1:n.1599T>C
ENST00000259008.7:c.3409T>C MANE Select	ENSP00000259008.2:p.Tyr1137His
ENST00000259008.6:c.3409T>C	ENSP00000259008.2:p.Tyr1137His
NM_032043.2:c.3409T>C , LRG_300t1:c.3409T>C	NP_114432.2:p.Tyr1137His
XM_011525332.1:c.3469T>C	XP_011523634.1:p.Tyr1157His
XM_011525333.1:c.3469T>C	XP_011523635.1:p.Tyr1157His
XM_011525334.1:c.3469T>C	XP_011523636.1:p.Tyr1157His
XM_011525335.1:c.3409T>C	XP_011523637.1:p.Tyr1137His
XM_011525336.1:c.3349T>C	XP_011523638.1:p.Tyr1117His
XM_011525337.1:c.3268T>C	XP_011523639.1:p.Tyr1090His
XM_011525338.1:c.2986T>C	XP_011523640.1:p.Tyr996His
XM_011525332.3:c.3469T>C	XP_011523634.1:p.Tyr1157His
XM_011525333.3:c.3469T>C	XP_011523635.1:p.Tyr1157His
XM_011525334.2:c.3469T>C	XP_011523636.1:p.Tyr1157His
XM_011525335.3:c.3409T>C	XP_011523637.1:p.Tyr1137His
XM_011525336.2:c.3349T>C	XP_011523638.1:p.Tyr1117His
XM_011525337.2:c.3268T>C	XP_011523639.1:p.Tyr1090His
XM_011525338.2:c.2986T>C	XP_011523640.1:p.Tyr996His
XM_017025200.1:c.2926T>C	XP_016880689.1:p.Tyr976His
XM_017025201.1:c.2926T>C	XP_016880690.1:p.Tyr976His
XM_017025202.1:c.1555T>C	XP_016880691.1:p.Tyr519His
XM_017025203.1:c.1555T>C	XP_016880692.1:p.Tyr519His
NM_032043.3:c.3409T>C MANE Select	NP_114432.2:p.Tyr1137His