Canonical Allele Identifier: CA16604631
Gene: BMPR1B HGNC NCBI

Linked Data

ClinVar Variation Id: 384012
ClinVar RCV Id: RCV000444497
dbSNP Id: rs1057521819
MyVariant Identifiers: chr4:g.96075763C>T (hg19) chr4:g.95154612C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95154612C>T , CM000666.2:g.95154612C>T GRCh38
NC_000004.11:g.96075763C>T , CM000666.1:g.96075763C>T GRCh37
NC_000004.10:g.96294786C>T NCBI36
NG_009245.1:g.401636C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440890.7:c.1538C>T ENSP00000401907.2:p.Thr513Ile
ENST00000509540.6:c.1448C>T ENSP00000421671.1:p.Thr483Ile
ENST00000515059.6:c.1448C>T MANE Select ENSP00000426617.1:p.Thr483Ile
ENST00000672698.1:c.1448C>T ENSP00000500035.1:p.Thr483Ile
ENST00000264568.8:c.1448C>T ENSP00000264568.4:p.Thr483Ile
ENST00000394931.1:c.1448C>T ENSP00000378389.1:p.Thr483Ile
ENST00000440890.6:c.1538C>T ENSP00000401907.2:p.Thr513Ile
ENST00000509540.5:c.1448C>T ENSP00000421671.1:p.Thr483Ile
ENST00000512312.5:c.1448C>T ENSP00000425444.1:p.Thr483Ile
ENST00000515059.5:c.1448C>T ENSP00000426617.1:p.Thr483Ile
NM_001203.2:c.1448C>T NP_001194.1:p.Thr483Ile
NM_001256792.1:c.1448C>T NP_001243721.1:p.Thr483Ile
NM_001256793.1:c.1538C>T NP_001243722.1:p.Thr513Ile
NM_001256794.1:c.1448C>T NP_001243723.1:p.Thr483Ile
XM_011532201.1:c.1448C>T XP_011530503.1:p.Thr483Ile
XM_011532202.1:c.1448C>T XP_011530504.1:p.Thr483Ile
XM_011532201.2:c.1448C>T XP_011530503.1:p.Thr483Ile
XM_017008558.1:c.1448C>T XP_016864047.1:p.Thr483Ile
XM_017008559.1:c.1448C>T XP_016864048.1:p.Thr483Ile
XM_017008560.1:c.1448C>T XP_016864049.1:p.Thr483Ile
XM_017008561.1:c.1448C>T XP_016864050.1:p.Thr483Ile
NM_001203.3:c.1448C>T MANE Select NP_001194.1:p.Thr483Ile
NM_001256793.2:c.1538C>T NP_001243722.1:p.Thr513Ile
NM_001256792.2:c.1448C>T NP_001243721.1:p.Thr483Ile
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