Canonical Allele Identifier: CA888577
Gene: ITGB3BP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63454964T>C , CM000663.2:g.63454964T>C GRCh38
NC_000001.10:g.63920635T>C , CM000663.1:g.63920635T>C GRCh37
NC_000001.9:g.63693223T>C NCBI36
NG_030011.1:g.73310A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271002.15:c.259A>G MANE Select ENSP00000271002.10:p.Met87Val
ENST00000271002.14:c.259A>G ENSP00000271002.10:p.Met87Val
ENST00000371092.7:c.376A>G ENSP00000360133.3:p.Met126Val
ENST00000460394.5:n.308A>G
ENST00000461681.5:n.567A>G
ENST00000462285.5:n.129A>G
ENST00000476508.5:n.207A>G
ENST00000489099.5:c.259A>G ENSP00000432904.1:p.Met87Val
ENST00000489863.5:n.338A>G
NM_001206739.1:c.376A>G NP_001193668.1:p.Met126Val
NM_014288.4:c.259A>G NP_055103.3:p.Met87Val
NR_045147.1:n.399A>G
XM_006710514.2:c.259A>G XP_006710577.2:p.Met87Val
XM_006710515.2:c.259A>G XP_006710578.2:p.Met87Val
XM_011541131.1:c.139A>G XP_011539433.1:p.Met47Val
NM_001347145.1:c.259A>G NP_001334074.1:p.Met87Val
NM_001347147.1:c.259A>G NP_001334076.1:p.Met87Val
NM_001347148.1:c.139A>G NP_001334077.1:p.Met47Val
XM_017000853.2:c.259A>G XP_016856342.2:p.Met87Val
XM_017000854.2:c.139A>G XP_016856343.2:p.Met47Val
XM_017000855.2:c.361A>G XP_016856344.1:p.Met121Val
XM_024446041.1:c.361A>G XP_024301809.1:p.Met121Val
XM_024446042.1:c.139A>G XP_024301810.1:p.Met47Val
NM_001206739.2:c.376A>G NP_001193668.1:p.Met126Val
NM_001347145.2:c.259A>G NP_001334074.1:p.Met87Val
NM_001347147.2:c.259A>G NP_001334076.1:p.Met87Val
NM_001347148.2:c.139A>G NP_001334077.1:p.Met47Val
NM_014288.5:c.259A>G MANE Select NP_055103.3:p.Met87Val
NR_045147.2:n.351A>G