Canonical Allele Identifier: CA501335020
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144075710
MyVariant Identifiers: chr17:g.59760962G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683601G>A , CM000679.2:g.61683601G>A GRCh38
NC_000017.10:g.59760962G>A , CM000679.1:g.59760962G>A GRCh37
NC_000017.9:g.57115744G>A NCBI36
NG_007409.2:g.184959C>T , LRG_300:g.184959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2185C>T
ENST00000682453.1:c.3445C>T ENSP00000506943.1:p.Leu1149=
ENST00000682477.1:c.*2871C>T ENSP00000507075.1:n.*2871C>T
ENST00000682589.1:n.9322C>T
ENST00000682755.1:c.3223C>T ENSP00000507660.1:p.Leu1075=
ENST00000682989.1:c.*536C>T ENSP00000507786.1:n.*536C>T
ENST00000683039.1:c.3445C>T ENSP00000508303.1:p.Leu1149=
ENST00000683235.1:c.*860C>T ENSP00000507646.1:n.*860C>T
ENST00000683535.1:n.1575C>T
ENST00000684584.1:c.2608C>T ENSP00000508044.1:p.Leu870=
ENST00000684626.1:n.1691C>T
ENST00000684769.1:c.1635C>T ENSP00000507691.1:n.1635C>T
ENST00000259008.7:c.3445C>T MANE Select ENSP00000259008.2:p.Leu1149=
ENST00000259008.6:c.3445C>T ENSP00000259008.2:p.Leu1149=
NM_032043.2:c.3445C>T , LRG_300t1:c.3445C>T NP_114432.2:p.Leu1149=
XM_011525332.1:c.3505C>T XP_011523634.1:p.Leu1169=
XM_011525333.1:c.3505C>T XP_011523635.1:p.Leu1169=
XM_011525334.1:c.3505C>T XP_011523636.1:p.Leu1169=
XM_011525335.1:c.3445C>T XP_011523637.1:p.Leu1149=
XM_011525336.1:c.3385C>T XP_011523638.1:p.Leu1129=
XM_011525337.1:c.3304C>T XP_011523639.1:p.Leu1102=
XM_011525338.1:c.3022C>T XP_011523640.1:p.Leu1008=
XM_011525332.3:c.3505C>T XP_011523634.1:p.Leu1169=
XM_011525333.3:c.3505C>T XP_011523635.1:p.Leu1169=
XM_011525334.2:c.3505C>T XP_011523636.1:p.Leu1169=
XM_011525335.3:c.3445C>T XP_011523637.1:p.Leu1149=
XM_011525336.2:c.3385C>T XP_011523638.1:p.Leu1129=
XM_011525337.2:c.3304C>T XP_011523639.1:p.Leu1102=
XM_011525338.2:c.3022C>T XP_011523640.1:p.Leu1008=
XM_017025200.1:c.2962C>T XP_016880689.1:p.Leu988=
XM_017025201.1:c.2962C>T XP_016880690.1:p.Leu988=
XM_017025202.1:c.1591C>T XP_016880691.1:p.Leu531=
XM_017025203.1:c.1591C>T XP_016880692.1:p.Leu531=
NM_032043.3:c.3445C>T MANE Select NP_114432.2:p.Leu1149=