Canonical Allele Identifier: CA400483597

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 566370
• ClinVar RCV Id: RCV000686161
• dbSNP Id: rs1567829310
• MyVariant Identifiers: chr17:g.59876549C>A (hg19) ; chr17:g.61799188C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61799188C>A , CM000679.2:g.61799188C>A	GRCh38
NC_000017.10:g.59876549C>A , CM000679.1:g.59876549C>A	GRCh37
NC_000017.9:g.57231331C>A	NCBI36
NG_007409.2:g.69372G>T , LRG_300:g.69372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.745G>T	ENSP00000463827.2:p.Ala249Ser
ENST00000584322.2:c.1252G>T	ENSP00000463272.2:p.Ala418Ser
ENST00000682066.1:c.745G>T	ENSP00000507191.1:p.Ala249Ser
ENST00000682453.1:c.1252G>T	ENSP00000506943.1:p.Ala418Ser
ENST00000682477.1:c.1252G>T	ENSP00000507075.1:p.Ala418Ser
ENST00000682589.1:n.2993G>T
ENST00000682611.1:c.745G>T	ENSP00000508326.1:p.Ala249Ser
ENST00000682755.1:c.1030G>T	ENSP00000507660.1:p.Ala344Ser
ENST00000682989.1:c.1252G>T	ENSP00000507786.1:p.Ala418Ser
ENST00000683039.1:c.1252G>T	ENSP00000508303.1:p.Ala418Ser
ENST00000683235.1:c.1252G>T	ENSP00000507646.1:p.Ala418Ser
ENST00000683381.1:c.1252G>T	ENSP00000508184.1:p.Ala418Ser
ENST00000683692.1:c.830G>T	ENSP00000507964.1:n.830G>T
ENST00000684584.1:c.745G>T	ENSP00000508044.1:p.Ala249Ser
ENST00000259008.7:c.1252G>T MANE Select	ENSP00000259008.2:p.Ala418Ser
ENST00000259008.6:c.1252G>T	ENSP00000259008.2:p.Ala418Ser
ENST00000577598.5:c.1252G>T	ENSP00000464654.1:p.Ala418Ser
NM_032043.2:c.1252G>T , LRG_300t1:c.1252G>T	NP_114432.2:p.Ala418Ser
XM_011525332.1:c.1252G>T	XP_011523634.1:p.Ala418Ser
XM_011525333.1:c.1252G>T	XP_011523635.1:p.Ala418Ser
XM_011525334.1:c.1252G>T	XP_011523636.1:p.Ala418Ser
XM_011525335.1:c.1252G>T	XP_011523637.1:p.Ala418Ser
XM_011525336.1:c.1252G>T	XP_011523638.1:p.Ala418Ser
XM_011525337.1:c.1252G>T	XP_011523639.1:p.Ala418Ser
XM_011525338.1:c.769G>T	XP_011523640.1:p.Ala257Ser
XM_011525339.1:c.1252G>T	XP_011523641.1:p.Ala418Ser
XM_011525340.1:c.1252G>T	XP_011523642.1:p.Ala418Ser
XM_011525341.1:c.1252G>T	XP_011523643.1:p.Ala418Ser
XM_011525332.3:c.1252G>T	XP_011523634.1:p.Ala418Ser
XM_011525333.3:c.1252G>T	XP_011523635.1:p.Ala418Ser
XM_011525334.2:c.1252G>T	XP_011523636.1:p.Ala418Ser
XM_011525335.3:c.1252G>T	XP_011523637.1:p.Ala418Ser
XM_011525336.2:c.1252G>T	XP_011523638.1:p.Ala418Ser
XM_011525337.2:c.1252G>T	XP_011523639.1:p.Ala418Ser
XM_011525338.2:c.769G>T	XP_011523640.1:p.Ala257Ser
XM_011525339.3:c.1252G>T	XP_011523641.1:p.Ala418Ser
XM_011525340.3:c.1252G>T	XP_011523642.1:p.Ala418Ser
XM_011525341.3:c.1252G>T	XP_011523643.1:p.Ala418Ser
XM_017025200.1:c.769G>T	XP_016880689.1:p.Ala257Ser
XM_017025201.1:c.709G>T	XP_016880690.1:p.Ala237Ser
NM_032043.3:c.1252G>T MANE Select	NP_114432.2:p.Ala418Ser