Canonical Allele Identifier: CA400478505

Gene: BRIP1

Linked Data

• dbSNP Id: rs1259866317
• MyVariant Identifiers: chr17:g.59760903T>A (hg19) ; chr17:g.61683542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683542T>A , CM000679.2:g.61683542T>A	GRCh38
NC_000017.10:g.59760903T>A , CM000679.1:g.59760903T>A	GRCh37
NC_000017.9:g.57115685T>A	NCBI36
NG_007409.2:g.185018A>T , LRG_300:g.185018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2244A>T
ENST00000682453.1:c.3504A>T	ENSP00000506943.1:p.Lys1168Asn
ENST00000682477.1:c.*2930A>T	ENSP00000507075.1:n.*2930A>T
ENST00000682589.1:n.9381A>T
ENST00000682755.1:c.3282A>T	ENSP00000507660.1:p.Lys1094Asn
ENST00000682989.1:c.*595A>T	ENSP00000507786.1:n.*595A>T
ENST00000683039.1:c.3504A>T	ENSP00000508303.1:p.Lys1168Asn
ENST00000683235.1:c.*919A>T	ENSP00000507646.1:n.*919A>T
ENST00000683535.1:n.1634A>T
ENST00000684584.1:c.2667A>T	ENSP00000508044.1:p.Lys889Asn
ENST00000684626.1:n.1750A>T
ENST00000684769.1:c.1694A>T	ENSP00000507691.1:n.1694A>T
ENST00000259008.7:c.3504A>T MANE Select	ENSP00000259008.2:p.Lys1168Asn
ENST00000259008.6:c.3504A>T	ENSP00000259008.2:p.Lys1168Asn
NM_032043.2:c.3504A>T , LRG_300t1:c.3504A>T	NP_114432.2:p.Lys1168Asn
XM_011525332.1:c.3564A>T	XP_011523634.1:p.Lys1188Asn
XM_011525333.1:c.3564A>T	XP_011523635.1:p.Lys1188Asn
XM_011525334.1:c.3564A>T	XP_011523636.1:p.Lys1188Asn
XM_011525335.1:c.3504A>T	XP_011523637.1:p.Lys1168Asn
XM_011525336.1:c.3444A>T	XP_011523638.1:p.Lys1148Asn
XM_011525337.1:c.3363A>T	XP_011523639.1:p.Lys1121Asn
XM_011525338.1:c.3081A>T	XP_011523640.1:p.Lys1027Asn
XM_011525332.3:c.3564A>T	XP_011523634.1:p.Lys1188Asn
XM_011525333.3:c.3564A>T	XP_011523635.1:p.Lys1188Asn
XM_011525334.2:c.3564A>T	XP_011523636.1:p.Lys1188Asn
XM_011525335.3:c.3504A>T	XP_011523637.1:p.Lys1168Asn
XM_011525336.2:c.3444A>T	XP_011523638.1:p.Lys1148Asn
XM_011525337.2:c.3363A>T	XP_011523639.1:p.Lys1121Asn
XM_011525338.2:c.3081A>T	XP_011523640.1:p.Lys1027Asn
XM_017025200.1:c.3021A>T	XP_016880689.1:p.Lys1007Asn
XM_017025201.1:c.3021A>T	XP_016880690.1:p.Lys1007Asn
XM_017025202.1:c.1650A>T	XP_016880691.1:p.Lys550Asn
XM_017025203.1:c.1650A>T	XP_016880692.1:p.Lys550Asn
NM_032043.3:c.3504A>T MANE Select	NP_114432.2:p.Lys1168Asn