Canonical Allele Identifier: CA400479667

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761286T>G (hg19) ; chr17:g.61683925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683925T>G , CM000679.2:g.61683925T>G	GRCh38
NC_000017.10:g.59761286T>G , CM000679.1:g.59761286T>G	GRCh37
NC_000017.9:g.57116068T>G	NCBI36
NG_007409.2:g.184635A>C , LRG_300:g.184635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1861A>C
ENST00000682453.1:c.3121A>C	ENSP00000506943.1:p.Met1041Leu
ENST00000682477.1:c.*2547A>C	ENSP00000507075.1:n.*2547A>C
ENST00000682589.1:n.8998A>C
ENST00000682755.1:c.2899A>C	ENSP00000507660.1:p.Met967Leu
ENST00000682989.1:c.*212A>C	ENSP00000507786.1:n.*212A>C
ENST00000683039.1:c.3121A>C	ENSP00000508303.1:p.Met1041Leu
ENST00000683235.1:c.*536A>C	ENSP00000507646.1:n.*536A>C
ENST00000683535.1:n.1251A>C
ENST00000684584.1:c.2284A>C	ENSP00000508044.1:p.Met762Leu
ENST00000684626.1:n.1367A>C
ENST00000684769.1:c.1311A>C	ENSP00000507691.1:n.1311A>C
ENST00000259008.7:c.3121A>C MANE Select	ENSP00000259008.2:p.Met1041Leu
ENST00000259008.6:c.3121A>C	ENSP00000259008.2:p.Met1041Leu
NM_032043.2:c.3121A>C , LRG_300t1:c.3121A>C	NP_114432.2:p.Met1041Leu
XM_011525332.1:c.3181A>C	XP_011523634.1:p.Met1061Leu
XM_011525333.1:c.3181A>C	XP_011523635.1:p.Met1061Leu
XM_011525334.1:c.3181A>C	XP_011523636.1:p.Met1061Leu
XM_011525335.1:c.3121A>C	XP_011523637.1:p.Met1041Leu
XM_011525336.1:c.3061A>C	XP_011523638.1:p.Met1021Leu
XM_011525337.1:c.2980A>C	XP_011523639.1:p.Met994Leu
XM_011525338.1:c.2698A>C	XP_011523640.1:p.Met900Leu
XM_011525332.3:c.3181A>C	XP_011523634.1:p.Met1061Leu
XM_011525333.3:c.3181A>C	XP_011523635.1:p.Met1061Leu
XM_011525334.2:c.3181A>C	XP_011523636.1:p.Met1061Leu
XM_011525335.3:c.3121A>C	XP_011523637.1:p.Met1041Leu
XM_011525336.2:c.3061A>C	XP_011523638.1:p.Met1021Leu
XM_011525337.2:c.2980A>C	XP_011523639.1:p.Met994Leu
XM_011525338.2:c.2698A>C	XP_011523640.1:p.Met900Leu
XM_017025200.1:c.2638A>C	XP_016880689.1:p.Met880Leu
XM_017025201.1:c.2638A>C	XP_016880690.1:p.Met880Leu
XM_017025202.1:c.1267A>C	XP_016880691.1:p.Met423Leu
XM_017025203.1:c.1267A>C	XP_016880692.1:p.Met423Leu
NM_032043.3:c.3121A>C MANE Select	NP_114432.2:p.Met1041Leu