Canonical Allele Identifier: CA400478996

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823568
• ClinVar RCV Id: RCV001019926 ; RCV001873323
• dbSNP Id: rs1603275236
• MyVariant Identifiers: chr17:g.59761092C>A (hg19) ; chr17:g.61683731C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683731C>A , CM000679.2:g.61683731C>A	GRCh38
NC_000017.10:g.59761092C>A , CM000679.1:g.59761092C>A	GRCh37
NC_000017.9:g.57115874C>A	NCBI36
NG_007409.2:g.184829G>T , LRG_300:g.184829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2055G>T
ENST00000682453.1:c.3315G>T	ENSP00000506943.1:p.Leu1105Phe
ENST00000682477.1:c.*2741G>T	ENSP00000507075.1:n.*2741G>T
ENST00000682589.1:n.9192G>T
ENST00000682755.1:c.3093G>T	ENSP00000507660.1:p.Leu1031Phe
ENST00000682989.1:c.*406G>T	ENSP00000507786.1:n.*406G>T
ENST00000683039.1:c.3315G>T	ENSP00000508303.1:p.Leu1105Phe
ENST00000683235.1:c.*730G>T	ENSP00000507646.1:n.*730G>T
ENST00000683535.1:n.1445G>T
ENST00000684584.1:c.2478G>T	ENSP00000508044.1:p.Leu826Phe
ENST00000684626.1:n.1561G>T
ENST00000684769.1:c.1505G>T	ENSP00000507691.1:n.1505G>T
ENST00000259008.7:c.3315G>T MANE Select	ENSP00000259008.2:p.Leu1105Phe
ENST00000259008.6:c.3315G>T	ENSP00000259008.2:p.Leu1105Phe
NM_032043.2:c.3315G>T , LRG_300t1:c.3315G>T	NP_114432.2:p.Leu1105Phe
XM_011525332.1:c.3375G>T	XP_011523634.1:p.Leu1125Phe
XM_011525333.1:c.3375G>T	XP_011523635.1:p.Leu1125Phe
XM_011525334.1:c.3375G>T	XP_011523636.1:p.Leu1125Phe
XM_011525335.1:c.3315G>T	XP_011523637.1:p.Leu1105Phe
XM_011525336.1:c.3255G>T	XP_011523638.1:p.Leu1085Phe
XM_011525337.1:c.3174G>T	XP_011523639.1:p.Leu1058Phe
XM_011525338.1:c.2892G>T	XP_011523640.1:p.Leu964Phe
XM_011525332.3:c.3375G>T	XP_011523634.1:p.Leu1125Phe
XM_011525333.3:c.3375G>T	XP_011523635.1:p.Leu1125Phe
XM_011525334.2:c.3375G>T	XP_011523636.1:p.Leu1125Phe
XM_011525335.3:c.3315G>T	XP_011523637.1:p.Leu1105Phe
XM_011525336.2:c.3255G>T	XP_011523638.1:p.Leu1085Phe
XM_011525337.2:c.3174G>T	XP_011523639.1:p.Leu1058Phe
XM_011525338.2:c.2892G>T	XP_011523640.1:p.Leu964Phe
XM_017025200.1:c.2832G>T	XP_016880689.1:p.Leu944Phe
XM_017025201.1:c.2832G>T	XP_016880690.1:p.Leu944Phe
XM_017025202.1:c.1461G>T	XP_016880691.1:p.Leu487Phe
XM_017025203.1:c.1461G>T	XP_016880692.1:p.Leu487Phe
NM_032043.3:c.3315G>T MANE Select	NP_114432.2:p.Leu1105Phe