Canonical Allele Identifier: CA501335574

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1649498
• ClinVar RCV Id: RCV002144261
• dbSNP Id: rs2144091676
• MyVariant Identifiers: chr17:g.59761404G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684043G>A , CM000679.2:g.61684043G>A	GRCh38
NC_000017.10:g.59761404G>A , CM000679.1:g.59761404G>A	GRCh37
NC_000017.9:g.57116186G>A	NCBI36
NG_007409.2:g.184517C>T , LRG_300:g.184517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1743C>T
ENST00000682453.1:c.3003C>T	ENSP00000506943.1:p.Ser1001=
ENST00000682477.1:c.*2429C>T	ENSP00000507075.1:n.*2429C>T
ENST00000682589.1:n.8880C>T
ENST00000682755.1:c.2781C>T	ENSP00000507660.1:p.Ser927=
ENST00000682989.1:c.*94C>T	ENSP00000507786.1:n.*94C>T
ENST00000683039.1:c.3003C>T	ENSP00000508303.1:p.Ser1001=
ENST00000683235.1:c.*418C>T	ENSP00000507646.1:n.*418C>T
ENST00000683535.1:n.1133C>T
ENST00000684584.1:c.2166C>T	ENSP00000508044.1:p.Ser722=
ENST00000684626.1:n.1249C>T
ENST00000684769.1:c.1193C>T	ENSP00000507691.1:n.1193C>T
ENST00000259008.7:c.3003C>T MANE Select	ENSP00000259008.2:p.Ser1001=
ENST00000259008.6:c.3003C>T	ENSP00000259008.2:p.Ser1001=
NM_032043.2:c.3003C>T , LRG_300t1:c.3003C>T	NP_114432.2:p.Ser1001=
XM_011525332.1:c.3063C>T	XP_011523634.1:p.Ser1021=
XM_011525333.1:c.3063C>T	XP_011523635.1:p.Ser1021=
XM_011525334.1:c.3063C>T	XP_011523636.1:p.Ser1021=
XM_011525335.1:c.3003C>T	XP_011523637.1:p.Ser1001=
XM_011525336.1:c.2943C>T	XP_011523638.1:p.Ser981=
XM_011525337.1:c.2862C>T	XP_011523639.1:p.Ser954=
XM_011525338.1:c.2580C>T	XP_011523640.1:p.Ser860=
XM_011525332.3:c.3063C>T	XP_011523634.1:p.Ser1021=
XM_011525333.3:c.3063C>T	XP_011523635.1:p.Ser1021=
XM_011525334.2:c.3063C>T	XP_011523636.1:p.Ser1021=
XM_011525335.3:c.3003C>T	XP_011523637.1:p.Ser1001=
XM_011525336.2:c.2943C>T	XP_011523638.1:p.Ser981=
XM_011525337.2:c.2862C>T	XP_011523639.1:p.Ser954=
XM_011525338.2:c.2580C>T	XP_011523640.1:p.Ser860=
XM_017025200.1:c.2520C>T	XP_016880689.1:p.Ser840=
XM_017025201.1:c.2520C>T	XP_016880690.1:p.Ser840=
XM_017025202.1:c.1149C>T	XP_016880691.1:p.Ser383=
XM_017025203.1:c.1149C>T	XP_016880692.1:p.Ser383=
NM_032043.3:c.3003C>T MANE Select	NP_114432.2:p.Ser1001=