Canonical Allele Identifier: CA292267279

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1321103
• ClinVar RCV Id: RCV001777082
• dbSNP Id: rs866610891
• MyVariant Identifiers: chr17:g.59761007G>A (hg19) ; chr17:g.61683646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683646G>A , CM000679.2:g.61683646G>A	GRCh38
NC_000017.10:g.59761007G>A , CM000679.1:g.59761007G>A	GRCh37
NC_000017.9:g.57115789G>A	NCBI36
NG_007409.2:g.184914C>T , LRG_300:g.184914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2140C>T
ENST00000682453.1:c.3400C>T	ENSP00000506943.1:p.Pro1134Ser
ENST00000682477.1:c.*2826C>T	ENSP00000507075.1:n.*2826C>T
ENST00000682589.1:n.9277C>T
ENST00000682755.1:c.3178C>T	ENSP00000507660.1:p.Pro1060Ser
ENST00000682989.1:c.*491C>T	ENSP00000507786.1:n.*491C>T
ENST00000683039.1:c.3400C>T	ENSP00000508303.1:p.Pro1134Ser
ENST00000683235.1:c.*815C>T	ENSP00000507646.1:n.*815C>T
ENST00000683535.1:n.1530C>T
ENST00000684584.1:c.2563C>T	ENSP00000508044.1:p.Pro855Ser
ENST00000684626.1:n.1646C>T
ENST00000684769.1:c.1590C>T	ENSP00000507691.1:n.1590C>T
ENST00000259008.7:c.3400C>T MANE Select	ENSP00000259008.2:p.Pro1134Ser
ENST00000259008.6:c.3400C>T	ENSP00000259008.2:p.Pro1134Ser
NM_032043.2:c.3400C>T , LRG_300t1:c.3400C>T	NP_114432.2:p.Pro1134Ser
XM_011525332.1:c.3460C>T	XP_011523634.1:p.Pro1154Ser
XM_011525333.1:c.3460C>T	XP_011523635.1:p.Pro1154Ser
XM_011525334.1:c.3460C>T	XP_011523636.1:p.Pro1154Ser
XM_011525335.1:c.3400C>T	XP_011523637.1:p.Pro1134Ser
XM_011525336.1:c.3340C>T	XP_011523638.1:p.Pro1114Ser
XM_011525337.1:c.3259C>T	XP_011523639.1:p.Pro1087Ser
XM_011525338.1:c.2977C>T	XP_011523640.1:p.Pro993Ser
XM_011525332.3:c.3460C>T	XP_011523634.1:p.Pro1154Ser
XM_011525333.3:c.3460C>T	XP_011523635.1:p.Pro1154Ser
XM_011525334.2:c.3460C>T	XP_011523636.1:p.Pro1154Ser
XM_011525335.3:c.3400C>T	XP_011523637.1:p.Pro1134Ser
XM_011525336.2:c.3340C>T	XP_011523638.1:p.Pro1114Ser
XM_011525337.2:c.3259C>T	XP_011523639.1:p.Pro1087Ser
XM_011525338.2:c.2977C>T	XP_011523640.1:p.Pro993Ser
XM_017025200.1:c.2917C>T	XP_016880689.1:p.Pro973Ser
XM_017025201.1:c.2917C>T	XP_016880690.1:p.Pro973Ser
XM_017025202.1:c.1546C>T	XP_016880691.1:p.Pro516Ser
XM_017025203.1:c.1546C>T	XP_016880692.1:p.Pro516Ser
NM_032043.3:c.3400C>T MANE Select	NP_114432.2:p.Pro1134Ser