Canonical Allele Identifier: CA400478869

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144078484
• MyVariant Identifiers: chr17:g.59761034C>G (hg19) ; chr17:g.61683673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683673C>G , CM000679.2:g.61683673C>G	GRCh38
NC_000017.10:g.59761034C>G , CM000679.1:g.59761034C>G	GRCh37
NC_000017.9:g.57115816C>G	NCBI36
NG_007409.2:g.184887G>C , LRG_300:g.184887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2113G>C
ENST00000682453.1:c.3373G>C	ENSP00000506943.1:p.Ala1125Pro
ENST00000682477.1:c.*2799G>C	ENSP00000507075.1:n.*2799G>C
ENST00000682589.1:n.9250G>C
ENST00000682755.1:c.3151G>C	ENSP00000507660.1:p.Ala1051Pro
ENST00000682989.1:c.*464G>C	ENSP00000507786.1:n.*464G>C
ENST00000683039.1:c.3373G>C	ENSP00000508303.1:p.Ala1125Pro
ENST00000683235.1:c.*788G>C	ENSP00000507646.1:n.*788G>C
ENST00000683535.1:n.1503G>C
ENST00000684584.1:c.2536G>C	ENSP00000508044.1:p.Ala846Pro
ENST00000684626.1:n.1619G>C
ENST00000684769.1:c.1563G>C	ENSP00000507691.1:n.1563G>C
ENST00000259008.7:c.3373G>C MANE Select	ENSP00000259008.2:p.Ala1125Pro
ENST00000259008.6:c.3373G>C	ENSP00000259008.2:p.Ala1125Pro
NM_032043.2:c.3373G>C , LRG_300t1:c.3373G>C	NP_114432.2:p.Ala1125Pro
XM_011525332.1:c.3433G>C	XP_011523634.1:p.Ala1145Pro
XM_011525333.1:c.3433G>C	XP_011523635.1:p.Ala1145Pro
XM_011525334.1:c.3433G>C	XP_011523636.1:p.Ala1145Pro
XM_011525335.1:c.3373G>C	XP_011523637.1:p.Ala1125Pro
XM_011525336.1:c.3313G>C	XP_011523638.1:p.Ala1105Pro
XM_011525337.1:c.3232G>C	XP_011523639.1:p.Ala1078Pro
XM_011525338.1:c.2950G>C	XP_011523640.1:p.Ala984Pro
XM_011525332.3:c.3433G>C	XP_011523634.1:p.Ala1145Pro
XM_011525333.3:c.3433G>C	XP_011523635.1:p.Ala1145Pro
XM_011525334.2:c.3433G>C	XP_011523636.1:p.Ala1145Pro
XM_011525335.3:c.3373G>C	XP_011523637.1:p.Ala1125Pro
XM_011525336.2:c.3313G>C	XP_011523638.1:p.Ala1105Pro
XM_011525337.2:c.3232G>C	XP_011523639.1:p.Ala1078Pro
XM_011525338.2:c.2950G>C	XP_011523640.1:p.Ala984Pro
XM_017025200.1:c.2890G>C	XP_016880689.1:p.Ala964Pro
XM_017025201.1:c.2890G>C	XP_016880690.1:p.Ala964Pro
XM_017025202.1:c.1519G>C	XP_016880691.1:p.Ala507Pro
XM_017025203.1:c.1519G>C	XP_016880692.1:p.Ala507Pro
NM_032043.3:c.3373G>C MANE Select	NP_114432.2:p.Ala1125Pro