Canonical Allele Identifier: CA400479901

Gene: BRIP1

Linked Data

• dbSNP Id: rs1603275556
• MyVariant Identifiers: chr17:g.59761352C>A (hg19) ; chr17:g.61683991C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683991C>A , CM000679.2:g.61683991C>A	GRCh38
NC_000017.10:g.59761352C>A , CM000679.1:g.59761352C>A	GRCh37
NC_000017.9:g.57116134C>A	NCBI36
NG_007409.2:g.184569G>T , LRG_300:g.184569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1795G>T
ENST00000682453.1:c.3055G>T	ENSP00000506943.1:p.Ala1019Ser
ENST00000682477.1:c.*2481G>T	ENSP00000507075.1:n.*2481G>T
ENST00000682589.1:n.8932G>T
ENST00000682755.1:c.2833G>T	ENSP00000507660.1:p.Ala945Ser
ENST00000682989.1:c.*146G>T	ENSP00000507786.1:n.*146G>T
ENST00000683039.1:c.3055G>T	ENSP00000508303.1:p.Ala1019Ser
ENST00000683235.1:c.*470G>T	ENSP00000507646.1:n.*470G>T
ENST00000683535.1:n.1185G>T
ENST00000684584.1:c.2218G>T	ENSP00000508044.1:p.Ala740Ser
ENST00000684626.1:n.1301G>T
ENST00000684769.1:c.1245G>T	ENSP00000507691.1:n.1245G>T
ENST00000259008.7:c.3055G>T MANE Select	ENSP00000259008.2:p.Ala1019Ser
ENST00000259008.6:c.3055G>T	ENSP00000259008.2:p.Ala1019Ser
NM_032043.2:c.3055G>T , LRG_300t1:c.3055G>T	NP_114432.2:p.Ala1019Ser
XM_011525332.1:c.3115G>T	XP_011523634.1:p.Ala1039Ser
XM_011525333.1:c.3115G>T	XP_011523635.1:p.Ala1039Ser
XM_011525334.1:c.3115G>T	XP_011523636.1:p.Ala1039Ser
XM_011525335.1:c.3055G>T	XP_011523637.1:p.Ala1019Ser
XM_011525336.1:c.2995G>T	XP_011523638.1:p.Ala999Ser
XM_011525337.1:c.2914G>T	XP_011523639.1:p.Ala972Ser
XM_011525338.1:c.2632G>T	XP_011523640.1:p.Ala878Ser
XM_011525332.3:c.3115G>T	XP_011523634.1:p.Ala1039Ser
XM_011525333.3:c.3115G>T	XP_011523635.1:p.Ala1039Ser
XM_011525334.2:c.3115G>T	XP_011523636.1:p.Ala1039Ser
XM_011525335.3:c.3055G>T	XP_011523637.1:p.Ala1019Ser
XM_011525336.2:c.2995G>T	XP_011523638.1:p.Ala999Ser
XM_011525337.2:c.2914G>T	XP_011523639.1:p.Ala972Ser
XM_011525338.2:c.2632G>T	XP_011523640.1:p.Ala878Ser
XM_017025200.1:c.2572G>T	XP_016880689.1:p.Ala858Ser
XM_017025201.1:c.2572G>T	XP_016880690.1:p.Ala858Ser
XM_017025202.1:c.1201G>T	XP_016880691.1:p.Ala401Ser
XM_017025203.1:c.1201G>T	XP_016880692.1:p.Ala401Ser
NM_032043.3:c.3055G>T MANE Select	NP_114432.2:p.Ala1019Ser