Canonical Allele Identifier: CA400478830

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 3228126
• ClinVar RCV Id: RCV004519836
• gnomAD v4: 17-61683654-T-G
• MyVariant Identifiers: chr17:g.59761015T>G (hg19) ; chr17:g.61683654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683654T>G , CM000679.2:g.61683654T>G	GRCh38
NC_000017.10:g.59761015T>G , CM000679.1:g.59761015T>G	GRCh37
NC_000017.9:g.57115797T>G	NCBI36
NG_007409.2:g.184906A>C , LRG_300:g.184906A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2132A>C
ENST00000682453.1:c.3392A>C	ENSP00000506943.1:p.Tyr1131Ser
ENST00000682477.1:c.*2818A>C	ENSP00000507075.1:n.*2818A>C
ENST00000682589.1:n.9269A>C
ENST00000682755.1:c.3170A>C	ENSP00000507660.1:p.Tyr1057Ser
ENST00000682989.1:c.*483A>C	ENSP00000507786.1:n.*483A>C
ENST00000683039.1:c.3392A>C	ENSP00000508303.1:p.Tyr1131Ser
ENST00000683235.1:c.*807A>C	ENSP00000507646.1:n.*807A>C
ENST00000683535.1:n.1522A>C
ENST00000684584.1:c.2555A>C	ENSP00000508044.1:p.Tyr852Ser
ENST00000684626.1:n.1638A>C
ENST00000684769.1:c.1582A>C	ENSP00000507691.1:n.1582A>C
ENST00000259008.7:c.3392A>C MANE Select	ENSP00000259008.2:p.Tyr1131Ser
ENST00000259008.6:c.3392A>C	ENSP00000259008.2:p.Tyr1131Ser
NM_032043.2:c.3392A>C , LRG_300t1:c.3392A>C	NP_114432.2:p.Tyr1131Ser
XM_011525332.1:c.3452A>C	XP_011523634.1:p.Tyr1151Ser
XM_011525333.1:c.3452A>C	XP_011523635.1:p.Tyr1151Ser
XM_011525334.1:c.3452A>C	XP_011523636.1:p.Tyr1151Ser
XM_011525335.1:c.3392A>C	XP_011523637.1:p.Tyr1131Ser
XM_011525336.1:c.3332A>C	XP_011523638.1:p.Tyr1111Ser
XM_011525337.1:c.3251A>C	XP_011523639.1:p.Tyr1084Ser
XM_011525338.1:c.2969A>C	XP_011523640.1:p.Tyr990Ser
XM_011525332.3:c.3452A>C	XP_011523634.1:p.Tyr1151Ser
XM_011525333.3:c.3452A>C	XP_011523635.1:p.Tyr1151Ser
XM_011525334.2:c.3452A>C	XP_011523636.1:p.Tyr1151Ser
XM_011525335.3:c.3392A>C	XP_011523637.1:p.Tyr1131Ser
XM_011525336.2:c.3332A>C	XP_011523638.1:p.Tyr1111Ser
XM_011525337.2:c.3251A>C	XP_011523639.1:p.Tyr1084Ser
XM_011525338.2:c.2969A>C	XP_011523640.1:p.Tyr990Ser
XM_017025200.1:c.2909A>C	XP_016880689.1:p.Tyr970Ser
XM_017025201.1:c.2909A>C	XP_016880690.1:p.Tyr970Ser
XM_017025202.1:c.1538A>C	XP_016880691.1:p.Tyr513Ser
XM_017025203.1:c.1538A>C	XP_016880692.1:p.Tyr513Ser
NM_032043.3:c.3392A>C MANE Select	NP_114432.2:p.Tyr1131Ser