LDH info

Canonical Allele Identifier: CA165277
Gene: BRIP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 141382
dbSNP Id: rs368796923

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61799200G>A , CM000679.2:g.61799200G>A GRCh38
NC_000017.10:g.59876561G>A , CM000679.1:g.59876561G>A GRCh37
NC_000017.9:g.57231343G>A NCBI36
NG_007409.2:g.69360C>T , LRG_300:g.69360C>T

Transcript Alleles

HGVS Amino-acid change
NM_032043.2:c.1240C>T , LRG_300t1:c.1240C>T NP_114432.2:p.Gln414Ter
XM_011525332.1:c.1240C>T XP_011523634.1:p.Gln414Ter
XM_011525333.1:c.1240C>T XP_011523635.1:p.Gln414Ter
XM_011525334.1:c.1240C>T XP_011523636.1:p.Gln414Ter
XM_011525335.1:c.1240C>T XP_011523637.1:p.Gln414Ter
XM_011525336.1:c.1240C>T XP_011523638.1:p.Gln414Ter
XM_011525337.1:c.1240C>T XP_011523639.1:p.Gln414Ter
XM_011525338.1:c.757C>T XP_011523640.1:p.Gln253Ter
XM_011525339.1:c.1240C>T XP_011523641.1:p.Gln414Ter
XM_011525340.1:c.1240C>T XP_011523642.1:p.Gln414Ter
XM_011525341.1:c.1240C>T XP_011523643.1:p.Gln414Ter
XM_011525332.3:c.1240C>T XP_011523634.1:p.Gln414Ter
XM_011525333.3:c.1240C>T XP_011523635.1:p.Gln414Ter
XM_011525334.2:c.1240C>T XP_011523636.1:p.Gln414Ter
XM_011525335.3:c.1240C>T XP_011523637.1:p.Gln414Ter
XM_011525336.2:c.1240C>T XP_011523638.1:p.Gln414Ter
XM_011525337.2:c.1240C>T XP_011523639.1:p.Gln414Ter
XM_011525338.2:c.757C>T XP_011523640.1:p.Gln253Ter
XM_011525339.3:c.1240C>T XP_011523641.1:p.Gln414Ter
XM_011525340.3:c.1240C>T XP_011523642.1:p.Gln414Ter
XM_011525341.3:c.1240C>T XP_011523643.1:p.Gln414Ter
XM_017025200.1:c.757C>T XP_016880689.1:p.Gln253Ter
XM_017025201.1:c.697C>T XP_016880690.1:p.Gln233Ter
ENST00000259008.6:c.1240C>T ENSP00000259008.2:p.Gln414Ter
ENST00000577598.5:n.1240C>T ENSP00000464654.1:p.Gln414Ter