Canonical Allele Identifier: CA501150420

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59857736A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61780375A>C , CM000679.2:g.61780375A>C	GRCh38
NC_000017.10:g.59857736A>C , CM000679.1:g.59857736A>C	GRCh37
NC_000017.9:g.57212518A>C	NCBI36
NG_007409.2:g.88185T>G , LRG_300:g.88185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1403T>G	ENSP00000463827.2:n.1403T>G
ENST00000584322.2:c.1821T>G	ENSP00000463272.2:p.Val607=
ENST00000682066.1:c.1314T>G	ENSP00000507191.1:p.Val438=
ENST00000682073.1:n.561T>G
ENST00000682453.1:c.1821T>G	ENSP00000506943.1:p.Val607=
ENST00000682477.1:c.*1247T>G	ENSP00000507075.1:n.*1247T>G
ENST00000682589.1:n.4000T>G
ENST00000682611.1:c.1314T>G	ENSP00000508326.1:p.Val438=
ENST00000682755.1:c.1599T>G	ENSP00000507660.1:p.Val533=
ENST00000682989.1:c.1821T>G	ENSP00000507786.1:p.Val607=
ENST00000683039.1:c.1821T>G	ENSP00000508303.1:p.Val607=
ENST00000683235.1:c.1821T>G	ENSP00000507646.1:p.Val607=
ENST00000683381.1:c.1821T>G	ENSP00000508184.1:p.Val607=
ENST00000684471.1:n.294T>G
ENST00000684584.1:c.1314T>G	ENSP00000508044.1:p.Val438=
ENST00000259008.7:c.1821T>G MANE Select	ENSP00000259008.2:p.Val607=
ENST00000259008.6:c.1821T>G	ENSP00000259008.2:p.Val607=
ENST00000577598.5:c.1821T>G	ENSP00000464654.1:p.Val607=
ENST00000579028.1:c.514T>G
NM_032043.2:c.1821T>G , LRG_300t1:c.1821T>G	NP_114432.2:p.Val607=
XM_011525332.1:c.1821T>G	XP_011523634.1:p.Val607=
XM_011525333.1:c.1821T>G	XP_011523635.1:p.Val607=
XM_011525334.1:c.1821T>G	XP_011523636.1:p.Val607=
XM_011525335.1:c.1821T>G	XP_011523637.1:p.Val607=
XM_011525336.1:c.1821T>G	XP_011523638.1:p.Val607=
XM_011525337.1:c.1794+465T>G	XP_011523639.1:n.1794+465T>G
XM_011525338.1:c.1338T>G	XP_011523640.1:p.Val446=
XM_011525339.1:c.1821T>G	XP_011523641.1:p.Val607=
XM_011525340.1:c.1821T>G	XP_011523642.1:p.Val607=
XM_011525341.1:c.1821T>G	XP_011523643.1:p.Val607=
XM_011525332.3:c.1821T>G	XP_011523634.1:p.Val607=
XM_011525333.3:c.1821T>G	XP_011523635.1:p.Val607=
XM_011525334.2:c.1821T>G	XP_011523636.1:p.Val607=
XM_011525335.3:c.1821T>G	XP_011523637.1:p.Val607=
XM_011525336.2:c.1821T>G	XP_011523638.1:p.Val607=
XM_011525337.2:c.1794+465T>G	XP_011523639.1:n.1794+465T>G
XM_011525338.2:c.1338T>G	XP_011523640.1:p.Val446=
XM_011525339.3:c.1821T>G	XP_011523641.1:p.Val607=
XM_011525340.3:c.1821T>G	XP_011523642.1:p.Val607=
XM_011525341.3:c.1821T>G	XP_011523643.1:p.Val607=
XM_017025200.1:c.1338T>G	XP_016880689.1:p.Val446=
XM_017025201.1:c.1278T>G	XP_016880690.1:p.Val426=
NM_032043.3:c.1821T>G MANE Select	NP_114432.2:p.Val607=