Canonical Allele Identifier: CA8690915
Gene: BRIP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 262007
ClinVar RCV Id: RCV000246632
dbSNP Id: rs4988344

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61847251G>C , CM000679.2:g.61847251G>C GRCh38
NC_000017.10:g.59924612G>C , CM000679.1:g.59924612G>C GRCh37
NC_000017.9:g.57279394G>C NCBI36
NG_007409.2:g.21309C>G , LRG_300:g.21309C>G

Transcript Alleles

HGVS Amino-acid change
NM_032043.2:c.508-31C>G , LRG_300t1:c.508-31C>G NP_114432.2:p.=
XM_011525332.1:c.508-31C>G XP_011523634.1:p.=
XM_011525333.1:c.508-31C>G XP_011523635.1:p.=
XM_011525334.1:c.508-31C>G XP_011523636.1:p.=
XM_011525335.1:c.508-31C>G XP_011523637.1:p.=
XM_011525336.1:c.508-31C>G XP_011523638.1:p.=
XM_011525337.1:c.508-31C>G XP_011523639.1:p.=
XM_011525338.1:c.25-31C>G XP_011523640.1:p.=
XM_011525339.1:c.508-31C>G XP_011523641.1:p.=
XM_011525340.1:c.508-31C>G XP_011523642.1:p.=
XM_011525341.1:c.508-31C>G XP_011523643.1:p.=
XM_011525332.3:c.508-31C>G XP_011523634.1:p.=
XM_011525333.3:c.508-31C>G XP_011523635.1:p.=
XM_011525334.2:c.508-31C>G XP_011523636.1:p.=
XM_011525335.3:c.508-31C>G XP_011523637.1:p.=
XM_011525336.2:c.508-31C>G XP_011523638.1:p.=
XM_011525337.2:c.508-31C>G XP_011523639.1:p.=
XM_011525338.2:c.25-31C>G XP_011523640.1:p.=
XM_011525339.3:c.508-31C>G XP_011523641.1:p.=
XM_011525340.3:c.508-31C>G XP_011523642.1:p.=
XM_011525341.3:c.508-31C>G XP_011523643.1:p.=
XM_017025200.1:c.25-31C>G XP_016880689.1:p.=
ENST00000259008.6:c.508-31C>G ENSP00000259008.2:p.=
ENST00000577598.5:n.508-31C>G ENSP00000464654.1:p.=