Canonical Allele Identifier: CA501335301
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144084758
MyVariant Identifiers: chr17:g.59761209T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683848T>A , CM000679.2:g.61683848T>A GRCh38
NC_000017.10:g.59761209T>A , CM000679.1:g.59761209T>A GRCh37
NC_000017.9:g.57115991T>A NCBI36
NG_007409.2:g.184712A>T , LRG_300:g.184712A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1938A>T
ENST00000682453.1:c.3198A>T ENSP00000506943.1:p.Ser1066=
ENST00000682477.1:c.*2624A>T ENSP00000507075.1:n.*2624A>T
ENST00000682589.1:n.9075A>T
ENST00000682755.1:c.2976A>T ENSP00000507660.1:p.Ser992=
ENST00000682989.1:c.*289A>T ENSP00000507786.1:n.*289A>T
ENST00000683039.1:c.3198A>T ENSP00000508303.1:p.Ser1066=
ENST00000683235.1:c.*613A>T ENSP00000507646.1:n.*613A>T
ENST00000683535.1:n.1328A>T
ENST00000684584.1:c.2361A>T ENSP00000508044.1:p.Ser787=
ENST00000684626.1:n.1444A>T
ENST00000684769.1:c.1388A>T ENSP00000507691.1:n.1388A>T
ENST00000259008.7:c.3198A>T MANE Select ENSP00000259008.2:p.Ser1066=
ENST00000259008.6:c.3198A>T ENSP00000259008.2:p.Ser1066=
NM_032043.2:c.3198A>T , LRG_300t1:c.3198A>T NP_114432.2:p.Ser1066=
XM_011525332.1:c.3258A>T XP_011523634.1:p.Ser1086=
XM_011525333.1:c.3258A>T XP_011523635.1:p.Ser1086=
XM_011525334.1:c.3258A>T XP_011523636.1:p.Ser1086=
XM_011525335.1:c.3198A>T XP_011523637.1:p.Ser1066=
XM_011525336.1:c.3138A>T XP_011523638.1:p.Ser1046=
XM_011525337.1:c.3057A>T XP_011523639.1:p.Ser1019=
XM_011525338.1:c.2775A>T XP_011523640.1:p.Ser925=
XM_011525332.3:c.3258A>T XP_011523634.1:p.Ser1086=
XM_011525333.3:c.3258A>T XP_011523635.1:p.Ser1086=
XM_011525334.2:c.3258A>T XP_011523636.1:p.Ser1086=
XM_011525335.3:c.3198A>T XP_011523637.1:p.Ser1066=
XM_011525336.2:c.3138A>T XP_011523638.1:p.Ser1046=
XM_011525337.2:c.3057A>T XP_011523639.1:p.Ser1019=
XM_011525338.2:c.2775A>T XP_011523640.1:p.Ser925=
XM_017025200.1:c.2715A>T XP_016880689.1:p.Ser905=
XM_017025201.1:c.2715A>T XP_016880690.1:p.Ser905=
XM_017025202.1:c.1344A>T XP_016880691.1:p.Ser448=
XM_017025203.1:c.1344A>T XP_016880692.1:p.Ser448=
NM_032043.3:c.3198A>T MANE Select NP_114432.2:p.Ser1066=