Canonical Allele Identifier: CA400481335

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59763254T>A (hg19) ; chr17:g.61685893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685893T>A , CM000679.2:g.61685893T>A	GRCh38
NC_000017.10:g.59763254T>A , CM000679.1:g.59763254T>A	GRCh37
NC_000017.9:g.57118036T>A	NCBI36
NG_007409.2:g.182667A>T , LRG_300:g.182667A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2978A>T	ENSP00000507191.1:n.2978A>T
ENST00000682073.1:n.1588A>T
ENST00000682433.1:n.1927A>T
ENST00000682453.1:c.2848A>T	ENSP00000506943.1:p.Lys950Ter
ENST00000682477.1:c.*2274A>T	ENSP00000507075.1:n.*2274A>T
ENST00000682589.1:n.8725A>T
ENST00000682755.1:c.2626A>T	ENSP00000507660.1:p.Lys876Ter
ENST00000682989.1:c.2610-1753A>T	ENSP00000507786.1:n.2610-1753A>T
ENST00000683039.1:c.2848A>T	ENSP00000508303.1:p.Lys950Ter
ENST00000683235.1:c.*263A>T	ENSP00000507646.1:n.*263A>T
ENST00000683535.1:n.978A>T
ENST00000684471.1:n.1261A>T
ENST00000684584.1:c.2069-1753A>T	ENSP00000508044.1:n.2069-1753A>T
ENST00000684626.1:n.1094A>T
ENST00000684769.1:c.1038A>T	ENSP00000507691.1:n.1038A>T
ENST00000259008.7:c.2848A>T MANE Select	ENSP00000259008.2:p.Lys950Ter
ENST00000259008.6:c.2848A>T	ENSP00000259008.2:p.Lys950Ter
ENST00000577598.5:c.2848A>T	ENSP00000464654.1:p.Lys950Ter
NM_032043.2:c.2848A>T , LRG_300t1:c.2848A>T	NP_114432.2:p.Lys950Ter
XM_011525332.1:c.2908A>T	XP_011523634.1:p.Lys970Ter
XM_011525333.1:c.2908A>T	XP_011523635.1:p.Lys970Ter
XM_011525334.1:c.2908A>T	XP_011523636.1:p.Lys970Ter
XM_011525335.1:c.2848A>T	XP_011523637.1:p.Lys950Ter
XM_011525336.1:c.2788A>T	XP_011523638.1:p.Lys930Ter
XM_011525337.1:c.2707A>T	XP_011523639.1:p.Lys903Ter
XM_011525338.1:c.2425A>T	XP_011523640.1:p.Lys809Ter
XM_011525332.3:c.2908A>T	XP_011523634.1:p.Lys970Ter
XM_011525333.3:c.2908A>T	XP_011523635.1:p.Lys970Ter
XM_011525334.2:c.2908A>T	XP_011523636.1:p.Lys970Ter
XM_011525335.3:c.2848A>T	XP_011523637.1:p.Lys950Ter
XM_011525336.2:c.2788A>T	XP_011523638.1:p.Lys930Ter
XM_011525337.2:c.2707A>T	XP_011523639.1:p.Lys903Ter
XM_011525338.2:c.2425A>T	XP_011523640.1:p.Lys809Ter
XM_017025200.1:c.2365A>T	XP_016880689.1:p.Lys789Ter
XM_017025201.1:c.2365A>T	XP_016880690.1:p.Lys789Ter
XM_017025202.1:c.994A>T	XP_016880691.1:p.Lys332Ter
XM_017025203.1:c.994A>T	XP_016880692.1:p.Lys332Ter
NM_032043.3:c.2848A>T MANE Select	NP_114432.2:p.Lys950Ter