Canonical Allele Identifier: CA658657976

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 460495
• ClinVar RCV Id: RCV000549130 ; RCV001185482
• dbSNP Id: rs1554888956
• gnomAD v4: 10-86899784-C-T
• MyVariant Identifiers: chr10:g.88659541C>T (hg19) ; chr10:g.86899784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899784C>T , CM000672.2:g.86899784C>T	GRCh38
NC_000010.10:g.88659541C>T , CM000672.1:g.88659541C>T	GRCh37
NC_000010.9:g.88649521C>T	NCBI36
NG_009362.1:g.148146C>T , LRG_298:g.148146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.334-10C>T	ENSP00000483569.2:n.334-10C>T
ENST00000635816.2:c.334-10C>T	ENSP00000489707.1:n.334-10C>T
ENST00000636056.2:c.334-10C>T	ENSP00000490273.1:n.334-10C>T
ENST00000372037.8:c.334-10C>T MANE Select	ENSP00000361107.2:n.334-10C>T
ENST00000635816.1:c.334-10C>T	ENSP00000489707.1:n.334-10C>T
ENST00000636056.1:c.334-10C>T	ENSP00000490273.1:n.334-10C>T
ENST00000638429.1:c.334-10C>T	ENSP00000492290.1:n.334-10C>T
ENST00000372037.7:c.334-10C>T	ENSP00000361107.1:n.334-10C>T
NM_004329.2:c.334-10C>T , LRG_298t1:c.334-10C>T	NP_004320.2:n.334-10C>T
XM_011540103.1:c.334-10C>T	XP_011538405.1:n.334-10C>T
XM_011540104.1:c.334-10C>T	XP_011538406.1:n.334-10C>T
XM_011540103.2:c.334-10C>T	XP_011538405.1:n.334-10C>T
XM_011540104.2:c.334-10C>T	XP_011538406.1:n.334-10C>T
NM_004329.3:c.334-10C>T MANE Select	NP_004320.2:n.334-10C>T