Canonical Allele Identifier: CA658683568

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 496224
• ClinVar RCV Id: RCV000589857 ; RCV001410443 ; RCV002255468 ; RCV003389652
• dbSNP Id: rs863224395
• MyVariant Identifiers: chr10:g.88659657C>T (hg19) ; chr10:g.86899900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899900C>T , CM000672.2:g.86899900C>T	GRCh38
NC_000010.10:g.88659657C>T , CM000672.1:g.88659657C>T	GRCh37
NC_000010.9:g.88649637C>T	NCBI36
NG_009362.1:g.148262C>T , LRG_298:g.148262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.430+10C>T	ENSP00000483569.2:n.430+10C>T
ENST00000635816.2:c.430+10C>T	ENSP00000489707.1:n.430+10C>T
ENST00000636056.2:c.430+10C>T	ENSP00000490273.1:n.430+10C>T
ENST00000372037.8:c.430+10C>T MANE Select	ENSP00000361107.2:n.430+10C>T
ENST00000635816.1:c.430+10C>T	ENSP00000489707.1:n.430+10C>T
ENST00000636056.1:c.430+10C>T	ENSP00000490273.1:n.430+10C>T
ENST00000638429.1:c.430+10C>T	ENSP00000492290.1:n.430+10C>T
ENST00000372037.7:c.430+10C>T	ENSP00000361107.1:n.430+10C>T
NM_004329.2:c.430+10C>T , LRG_298t1:c.430+10C>T	NP_004320.2:n.430+10C>T
XM_011540103.1:c.430+10C>T	XP_011538405.1:n.430+10C>T
XM_011540104.1:c.430+10C>T	XP_011538406.1:n.430+10C>T
XM_011540103.2:c.430+10C>T	XP_011538405.1:n.430+10C>T
XM_011540104.2:c.430+10C>T	XP_011538406.1:n.430+10C>T
NM_004329.3:c.430+10C>T MANE Select	NP_004320.2:n.430+10C>T