Canonical Allele Identifier: CA470308796

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1555843
• ClinVar RCV Id: RCV002202114
• dbSNP Id: rs2133623926
• MyVariant Identifiers: chr10:g.88683354C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86923597C>T , CM000672.2:g.86923597C>T	GRCh38
NC_000010.10:g.88683354C>T , CM000672.1:g.88683354C>T	GRCh37
NC_000010.9:g.88673334C>T	NCBI36
NG_009362.1:g.171959C>T , LRG_298:g.171959C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.1477C>T	ENSP00000483569.2:p.Leu493=
ENST00000635816.2:c.1477C>T	ENSP00000489707.1:p.Leu493=
ENST00000636056.2:c.1477C>T	ENSP00000490273.1:p.Leu493=
ENST00000372037.8:c.1477C>T MANE Select	ENSP00000361107.2:p.Leu493=
ENST00000635816.1:c.1477C>T	ENSP00000489707.1:p.Leu493=
ENST00000636056.1:c.1477C>T	ENSP00000490273.1:p.Leu493=
ENST00000638429.1:c.1477C>T	ENSP00000492290.1:p.Leu493=
ENST00000372037.7:c.1477C>T	ENSP00000361107.1:p.Leu493=
NM_004329.2:c.1477C>T , LRG_298t1:c.1477C>T	NP_004320.2:p.Leu493=
XM_011540103.1:c.1477C>T	XP_011538405.1:p.Leu493=
XM_011540104.1:c.1477C>T	XP_011538406.1:p.Leu493=
XM_011540103.2:c.1477C>T	XP_011538405.1:p.Leu493=
XM_011540104.2:c.1477C>T	XP_011538406.1:p.Leu493=
NM_004329.3:c.1477C>T MANE Select	NP_004320.2:p.Leu493=