Canonical Allele Identifier: CA400480030

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761410T>G (hg19) ; chr17:g.61684049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684049T>G , CM000679.2:g.61684049T>G	GRCh38
NC_000017.10:g.59761410T>G , CM000679.1:g.59761410T>G	GRCh37
NC_000017.9:g.57116192T>G	NCBI36
NG_007409.2:g.184511A>C , LRG_300:g.184511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1737A>C
ENST00000682453.1:c.2997A>C	ENSP00000506943.1:p.Arg999Ser
ENST00000682477.1:c.*2423A>C	ENSP00000507075.1:n.*2423A>C
ENST00000682589.1:n.8874A>C
ENST00000682755.1:c.2775A>C	ENSP00000507660.1:p.Arg925Ser
ENST00000682989.1:c.*88A>C	ENSP00000507786.1:n.*88A>C
ENST00000683039.1:c.2997A>C	ENSP00000508303.1:p.Arg999Ser
ENST00000683235.1:c.*412A>C	ENSP00000507646.1:n.*412A>C
ENST00000683535.1:n.1127A>C
ENST00000684584.1:c.2160A>C	ENSP00000508044.1:p.Arg720Ser
ENST00000684626.1:n.1243A>C
ENST00000684769.1:c.1187A>C	ENSP00000507691.1:n.1187A>C
ENST00000259008.7:c.2997A>C MANE Select	ENSP00000259008.2:p.Arg999Ser
ENST00000259008.6:c.2997A>C	ENSP00000259008.2:p.Arg999Ser
NM_032043.2:c.2997A>C , LRG_300t1:c.2997A>C	NP_114432.2:p.Arg999Ser
XM_011525332.1:c.3057A>C	XP_011523634.1:p.Arg1019Ser
XM_011525333.1:c.3057A>C	XP_011523635.1:p.Arg1019Ser
XM_011525334.1:c.3057A>C	XP_011523636.1:p.Arg1019Ser
XM_011525335.1:c.2997A>C	XP_011523637.1:p.Arg999Ser
XM_011525336.1:c.2937A>C	XP_011523638.1:p.Arg979Ser
XM_011525337.1:c.2856A>C	XP_011523639.1:p.Arg952Ser
XM_011525338.1:c.2574A>C	XP_011523640.1:p.Arg858Ser
XM_011525332.3:c.3057A>C	XP_011523634.1:p.Arg1019Ser
XM_011525333.3:c.3057A>C	XP_011523635.1:p.Arg1019Ser
XM_011525334.2:c.3057A>C	XP_011523636.1:p.Arg1019Ser
XM_011525335.3:c.2997A>C	XP_011523637.1:p.Arg999Ser
XM_011525336.2:c.2937A>C	XP_011523638.1:p.Arg979Ser
XM_011525337.2:c.2856A>C	XP_011523639.1:p.Arg952Ser
XM_011525338.2:c.2574A>C	XP_011523640.1:p.Arg858Ser
XM_017025200.1:c.2514A>C	XP_016880689.1:p.Arg838Ser
XM_017025201.1:c.2514A>C	XP_016880690.1:p.Arg838Ser
XM_017025202.1:c.1143A>C	XP_016880691.1:p.Arg381Ser
XM_017025203.1:c.1143A>C	XP_016880692.1:p.Arg381Ser
NM_032043.3:c.2997A>C MANE Select	NP_114432.2:p.Arg999Ser