Canonical Allele Identifier: CA3274446

Gene: GPBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.57247147G>A , CM000667.2:g.57247147G>A	GRCh38
NC_000005.9:g.56542974G>A , CM000667.1:g.56542974G>A	GRCh37
NC_000005.8:g.56578731G>A	NCBI36
NG_029503.1:g.78200G>A
NG_029503.2:g.78200G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022913.4:c.736G>A MANE Select	NP_075064.1:p.Val246Ile
ENST00000506184.7:c.736G>A MANE Select	ENSP00000421202.2:p.Val246Ile
NM_001127235.2:c.757G>A	NP_001120707.2:p.Val253Ile
NM_001127236.2:c.757G>A	NP_001120708.1:p.Val253Ile
NM_001203246.1:c.223G>A	NP_001190175.1:p.Val75Ile
NM_001203246.2:c.223G>A	NP_001190175.1:p.Val75Ile
NM_001331037.1:c.796G>A	NP_001317966.1:p.Val266Ile
NM_001331037.2:c.796G>A	NP_001317966.1:p.Val266Ile
NM_022913.3:c.736G>A	NP_075064.1:p.Val246Ile
ENST00000264779.6:c.757G>A	ENSP00000264779.6:p.Val253Ile
ENST00000309096.4:n.1090G>A
ENST00000424459.7:c.796G>A	ENSP00000401596.2:p.Val266Ile
ENST00000506184.6:c.736G>A	ENSP00000421202.2:p.Val246Ile
ENST00000511209.5:c.757G>A	ENSP00000422337.1:p.Val253Ile
ENST00000513524.5:n.390G>A
ENST00000514387.6:c.223G>A	ENSP00000421709.2:p.Val75Ile
XM_005248571.2:c.817G>A	XP_005248628.1:p.Val273Ile
XM_005248572.2:c.817G>A	XP_005248629.1:p.Val273Ile
XM_005248573.2:c.796G>A	XP_005248630.1:p.Val266Ile
XM_005248574.2:c.757G>A	XP_005248631.1:p.Val253Ile
XM_006714673.2:c.817G>A	XP_006714736.1:p.Val273Ile
XM_006714673.4:c.817G>A	XP_006714736.1:p.Val273Ile
XM_006714674.2:c.796G>A	XP_006714737.1:p.Val266Ile
XM_017009754.2:c.817G>A	XP_016865243.1:p.Val273Ile
XM_017009757.2:c.757G>A	XP_016865246.1:p.Val253Ile
XM_017009758.2:c.736G>A	XP_016865247.1:p.Val246Ile
XM_017009759.2:c.736G>A	XP_016865248.1:p.Val246Ile
XM_024446172.1:c.817G>A	XP_024301940.1:p.Val273Ile
XM_024446173.1:c.796G>A	XP_024301941.1:p.Val266Ile
XM_024446174.1:c.796G>A	XP_024301942.1:p.Val266Ile
XM_024446175.1:c.757G>A	XP_024301943.1:p.Val253Ile
XM_024446176.1:c.757G>A	XP_024301944.1:p.Val253Ile
XM_024446177.1:c.736G>A	XP_024301945.1:p.Val246Ile
XM_024446178.1:c.223G>A	XP_024301946.1:p.Val75Ile
XM_024446179.1:c.223G>A	XP_024301947.1:p.Val75Ile
XM_024446180.1:c.223G>A	XP_024301948.1:p.Val75Ile
XR_001742204.2:n.1982G>A
XR_001742205.2:n.1961G>A
XR_002956169.1:n.1901G>A