Canonical Allele Identifier: CA400479195

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144083506
• MyVariant Identifiers: chr17:g.59761172T>A (hg19) ; chr17:g.61683811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683811T>A , CM000679.2:g.61683811T>A	GRCh38
NC_000017.10:g.59761172T>A , CM000679.1:g.59761172T>A	GRCh37
NC_000017.9:g.57115954T>A	NCBI36
NG_007409.2:g.184749A>T , LRG_300:g.184749A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1975A>T
ENST00000682453.1:c.3235A>T	ENSP00000506943.1:p.Ile1079Phe
ENST00000682477.1:c.*2661A>T	ENSP00000507075.1:n.*2661A>T
ENST00000682589.1:n.9112A>T
ENST00000682755.1:c.3013A>T	ENSP00000507660.1:p.Ile1005Phe
ENST00000682989.1:c.*326A>T	ENSP00000507786.1:n.*326A>T
ENST00000683039.1:c.3235A>T	ENSP00000508303.1:p.Ile1079Phe
ENST00000683235.1:c.*650A>T	ENSP00000507646.1:n.*650A>T
ENST00000683535.1:n.1365A>T
ENST00000684584.1:c.2398A>T	ENSP00000508044.1:p.Ile800Phe
ENST00000684626.1:n.1481A>T
ENST00000684769.1:c.1425A>T	ENSP00000507691.1:n.1425A>T
ENST00000259008.7:c.3235A>T MANE Select	ENSP00000259008.2:p.Ile1079Phe
ENST00000259008.6:c.3235A>T	ENSP00000259008.2:p.Ile1079Phe
NM_032043.2:c.3235A>T , LRG_300t1:c.3235A>T	NP_114432.2:p.Ile1079Phe
XM_011525332.1:c.3295A>T	XP_011523634.1:p.Ile1099Phe
XM_011525333.1:c.3295A>T	XP_011523635.1:p.Ile1099Phe
XM_011525334.1:c.3295A>T	XP_011523636.1:p.Ile1099Phe
XM_011525335.1:c.3235A>T	XP_011523637.1:p.Ile1079Phe
XM_011525336.1:c.3175A>T	XP_011523638.1:p.Ile1059Phe
XM_011525337.1:c.3094A>T	XP_011523639.1:p.Ile1032Phe
XM_011525338.1:c.2812A>T	XP_011523640.1:p.Ile938Phe
XM_011525332.3:c.3295A>T	XP_011523634.1:p.Ile1099Phe
XM_011525333.3:c.3295A>T	XP_011523635.1:p.Ile1099Phe
XM_011525334.2:c.3295A>T	XP_011523636.1:p.Ile1099Phe
XM_011525335.3:c.3235A>T	XP_011523637.1:p.Ile1079Phe
XM_011525336.2:c.3175A>T	XP_011523638.1:p.Ile1059Phe
XM_011525337.2:c.3094A>T	XP_011523639.1:p.Ile1032Phe
XM_011525338.2:c.2812A>T	XP_011523640.1:p.Ile938Phe
XM_017025200.1:c.2752A>T	XP_016880689.1:p.Ile918Phe
XM_017025201.1:c.2752A>T	XP_016880690.1:p.Ile918Phe
XM_017025202.1:c.1381A>T	XP_016880691.1:p.Ile461Phe
XM_017025203.1:c.1381A>T	XP_016880692.1:p.Ile461Phe
NM_032043.3:c.3235A>T MANE Select	NP_114432.2:p.Ile1079Phe