Canonical Allele Identifier: CA501335010
Gene: BRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59760951A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683590A>C , CM000679.2:g.61683590A>C GRCh38
NC_000017.10:g.59760951A>C , CM000679.1:g.59760951A>C GRCh37
NC_000017.9:g.57115733A>C NCBI36
NG_007409.2:g.184970T>G , LRG_300:g.184970T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2196T>G
ENST00000682453.1:c.3456T>G ENSP00000506943.1:p.Thr1152=
ENST00000682477.1:c.*2882T>G ENSP00000507075.1:n.*2882T>G
ENST00000682589.1:n.9333T>G
ENST00000682755.1:c.3234T>G ENSP00000507660.1:p.Thr1078=
ENST00000682989.1:c.*547T>G ENSP00000507786.1:n.*547T>G
ENST00000683039.1:c.3456T>G ENSP00000508303.1:p.Thr1152=
ENST00000683235.1:c.*871T>G ENSP00000507646.1:n.*871T>G
ENST00000683535.1:n.1586T>G
ENST00000684584.1:c.2619T>G ENSP00000508044.1:p.Thr873=
ENST00000684626.1:n.1702T>G
ENST00000684769.1:c.1646T>G ENSP00000507691.1:n.1646T>G
ENST00000259008.7:c.3456T>G MANE Select ENSP00000259008.2:p.Thr1152=
ENST00000259008.6:c.3456T>G ENSP00000259008.2:p.Thr1152=
NM_032043.2:c.3456T>G , LRG_300t1:c.3456T>G NP_114432.2:p.Thr1152=
XM_011525332.1:c.3516T>G XP_011523634.1:p.Thr1172=
XM_011525333.1:c.3516T>G XP_011523635.1:p.Thr1172=
XM_011525334.1:c.3516T>G XP_011523636.1:p.Thr1172=
XM_011525335.1:c.3456T>G XP_011523637.1:p.Thr1152=
XM_011525336.1:c.3396T>G XP_011523638.1:p.Thr1132=
XM_011525337.1:c.3315T>G XP_011523639.1:p.Thr1105=
XM_011525338.1:c.3033T>G XP_011523640.1:p.Thr1011=
XM_011525332.3:c.3516T>G XP_011523634.1:p.Thr1172=
XM_011525333.3:c.3516T>G XP_011523635.1:p.Thr1172=
XM_011525334.2:c.3516T>G XP_011523636.1:p.Thr1172=
XM_011525335.3:c.3456T>G XP_011523637.1:p.Thr1152=
XM_011525336.2:c.3396T>G XP_011523638.1:p.Thr1132=
XM_011525337.2:c.3315T>G XP_011523639.1:p.Thr1105=
XM_011525338.2:c.3033T>G XP_011523640.1:p.Thr1011=
XM_017025200.1:c.2973T>G XP_016880689.1:p.Thr991=
XM_017025201.1:c.2973T>G XP_016880690.1:p.Thr991=
XM_017025202.1:c.1602T>G XP_016880691.1:p.Thr534=
XM_017025203.1:c.1602T>G XP_016880692.1:p.Thr534=
NM_032043.3:c.3456T>G MANE Select NP_114432.2:p.Thr1152=