Canonical Allele Identifier: CA501150381

Gene: BRIP1

Linked Data

• dbSNP Id: rs145504336
• COSMIC: COSM5624357 ; COSM5624358
• MyVariant Identifiers: chr17:g.59857685C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61780324C>A , CM000679.2:g.61780324C>A	GRCh38
NC_000017.10:g.59857685C>A , CM000679.1:g.59857685C>A	GRCh37
NC_000017.9:g.57212467C>A	NCBI36
NG_007409.2:g.88236G>T , LRG_300:g.88236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1454G>T	ENSP00000463827.2:n.1454G>T
ENST00000584322.2:c.1872G>T	ENSP00000463272.2:p.Ser624=
ENST00000682066.1:c.1365G>T	ENSP00000507191.1:p.Ser455=
ENST00000682073.1:n.612G>T
ENST00000682453.1:c.1872G>T	ENSP00000506943.1:p.Ser624=
ENST00000682477.1:c.*1298G>T	ENSP00000507075.1:n.*1298G>T
ENST00000682589.1:n.4051G>T
ENST00000682611.1:c.1365G>T	ENSP00000508326.1:p.Ser455=
ENST00000682755.1:c.1650G>T	ENSP00000507660.1:p.Ser550=
ENST00000682989.1:c.1872G>T	ENSP00000507786.1:p.Ser624=
ENST00000683039.1:c.1872G>T	ENSP00000508303.1:p.Ser624=
ENST00000683235.1:c.1872G>T	ENSP00000507646.1:p.Ser624=
ENST00000683381.1:c.1872G>T	ENSP00000508184.1:p.Ser624=
ENST00000684471.1:n.345G>T
ENST00000684584.1:c.1365G>T	ENSP00000508044.1:p.Ser455=
ENST00000259008.7:c.1872G>T MANE Select	ENSP00000259008.2:p.Ser624=
ENST00000259008.6:c.1872G>T	ENSP00000259008.2:p.Ser624=
ENST00000577598.5:c.1872G>T	ENSP00000464654.1:p.Ser624=
ENST00000579028.1:c.565G>T
NM_032043.2:c.1872G>T , LRG_300t1:c.1872G>T	NP_114432.2:p.Ser624=
XM_011525332.1:c.1872G>T	XP_011523634.1:p.Ser624=
XM_011525333.1:c.1872G>T	XP_011523635.1:p.Ser624=
XM_011525334.1:c.1872G>T	XP_011523636.1:p.Ser624=
XM_011525335.1:c.1872G>T	XP_011523637.1:p.Ser624=
XM_011525336.1:c.1872G>T	XP_011523638.1:p.Ser624=
XM_011525337.1:c.1794+516G>T	XP_011523639.1:n.1794+516G>T
XM_011525338.1:c.1389G>T	XP_011523640.1:p.Ser463=
XM_011525339.1:c.1872G>T	XP_011523641.1:p.Ser624=
XM_011525340.1:c.1872G>T	XP_011523642.1:p.Ser624=
XM_011525341.1:c.1872G>T	XP_011523643.1:p.Ser624=
XM_011525332.3:c.1872G>T	XP_011523634.1:p.Ser624=
XM_011525333.3:c.1872G>T	XP_011523635.1:p.Ser624=
XM_011525334.2:c.1872G>T	XP_011523636.1:p.Ser624=
XM_011525335.3:c.1872G>T	XP_011523637.1:p.Ser624=
XM_011525336.2:c.1872G>T	XP_011523638.1:p.Ser624=
XM_011525337.2:c.1794+516G>T	XP_011523639.1:n.1794+516G>T
XM_011525338.2:c.1389G>T	XP_011523640.1:p.Ser463=
XM_011525339.3:c.1872G>T	XP_011523641.1:p.Ser624=
XM_011525340.3:c.1872G>T	XP_011523642.1:p.Ser624=
XM_011525341.3:c.1872G>T	XP_011523643.1:p.Ser624=
XM_017025200.1:c.1389G>T	XP_016880689.1:p.Ser463=
XM_017025201.1:c.1329G>T	XP_016880690.1:p.Ser443=
XM_017025203.1:c.-89G>T	XP_016880692.1:n.-89G>T
NM_032043.3:c.1872G>T MANE Select	NP_114432.2:p.Ser624=