Canonical Allele Identifier: CA400478117

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144070663
• MyVariant Identifiers: chr17:g.59760814A>C (hg19) ; chr17:g.61683453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683453A>C , CM000679.2:g.61683453A>C	GRCh38
NC_000017.10:g.59760814A>C , CM000679.1:g.59760814A>C	GRCh37
NC_000017.9:g.57115596A>C	NCBI36
NG_007409.2:g.185107T>G , LRG_300:g.185107T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2333T>G
ENST00000682453.1:c.3593T>G	ENSP00000506943.1:p.Ile1198Ser
ENST00000682477.1:c.*3019T>G	ENSP00000507075.1:n.*3019T>G
ENST00000682589.1:n.9470T>G
ENST00000682755.1:c.3371T>G	ENSP00000507660.1:p.Ile1124Ser
ENST00000682989.1:c.*684T>G	ENSP00000507786.1:n.*684T>G
ENST00000683039.1:c.3593T>G	ENSP00000508303.1:p.Ile1198Ser
ENST00000683235.1:c.*1008T>G	ENSP00000507646.1:n.*1008T>G
ENST00000683535.1:n.1723T>G
ENST00000684584.1:c.2756T>G	ENSP00000508044.1:p.Ile919Ser
ENST00000684626.1:n.1839T>G
ENST00000684769.1:c.1783T>G	ENSP00000507691.1:n.1783T>G
ENST00000259008.7:c.3593T>G MANE Select	ENSP00000259008.2:p.Ile1198Ser
ENST00000259008.6:c.3593T>G	ENSP00000259008.2:p.Ile1198Ser
NM_032043.2:c.3593T>G , LRG_300t1:c.3593T>G	NP_114432.2:p.Ile1198Ser
XM_011525332.1:c.3653T>G	XP_011523634.1:p.Ile1218Ser
XM_011525333.1:c.3653T>G	XP_011523635.1:p.Ile1218Ser
XM_011525334.1:c.3653T>G	XP_011523636.1:p.Ile1218Ser
XM_011525335.1:c.3593T>G	XP_011523637.1:p.Ile1198Ser
XM_011525336.1:c.3533T>G	XP_011523638.1:p.Ile1178Ser
XM_011525337.1:c.3452T>G	XP_011523639.1:p.Ile1151Ser
XM_011525338.1:c.3170T>G	XP_011523640.1:p.Ile1057Ser
XM_011525332.3:c.3653T>G	XP_011523634.1:p.Ile1218Ser
XM_011525333.3:c.3653T>G	XP_011523635.1:p.Ile1218Ser
XM_011525334.2:c.3653T>G	XP_011523636.1:p.Ile1218Ser
XM_011525335.3:c.3593T>G	XP_011523637.1:p.Ile1198Ser
XM_011525336.2:c.3533T>G	XP_011523638.1:p.Ile1178Ser
XM_011525337.2:c.3452T>G	XP_011523639.1:p.Ile1151Ser
XM_011525338.2:c.3170T>G	XP_011523640.1:p.Ile1057Ser
XM_017025200.1:c.3110T>G	XP_016880689.1:p.Ile1037Ser
XM_017025201.1:c.3110T>G	XP_016880690.1:p.Ile1037Ser
XM_017025202.1:c.1739T>G	XP_016880691.1:p.Ile580Ser
XM_017025203.1:c.1739T>G	XP_016880692.1:p.Ile580Ser
NM_032043.3:c.3593T>G MANE Select	NP_114432.2:p.Ile1198Ser