Canonical Allele Identifier: CA1925692749

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1842438139

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86842573T>C , CM000672.2:g.86842573T>C	GRCh38
NC_000010.10:g.88602330T>C , CM000672.1:g.88602330T>C	GRCh37
NC_000010.9:g.88592310T>C	NCBI36
NG_009362.1:g.90935T>C , LRG_298:g.90935T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.-257-833T>C	ENSP00000483569.2:n.-257-833T>C
ENST00000635816.2:c.-153+3594T>C	ENSP00000489707.1:n.-153+3594T>C
ENST00000636056.2:c.-153+3594T>C	ENSP00000490273.1:n.-153+3594T>C
ENST00000372037.8:c.-153+3594T>C MANE Select	ENSP00000361107.2:n.-153+3594T>C
ENST00000635816.1:c.-153+3594T>C	ENSP00000489707.1:n.-153+3594T>C
ENST00000636056.1:c.-153+3594T>C	ENSP00000490273.1:n.-153+3594T>C
ENST00000638429.1:c.-153+3594T>C	ENSP00000492290.1:n.-153+3594T>C
ENST00000372037.7:c.-153+3594T>C	ENSP00000361107.1:n.-153+3594T>C
ENST00000480152.2:c.-257-833T>C	ENSP00000483569.1:n.-257-833T>C
NM_004329.2:c.-153+3594T>C , LRG_298t1:c.-153+3594T>C	NP_004320.2:n.-153+3594T>C
XM_011540103.1:c.-153+3594T>C	XP_011538405.1:n.-153+3594T>C
XM_011540104.1:c.-257-833T>C	XP_011538406.1:n.-257-833T>C
XM_011540103.2:c.-153+3594T>C	XP_011538405.1:n.-153+3594T>C
XM_011540104.2:c.-257-833T>C	XP_011538406.1:n.-257-833T>C
NM_004329.3:c.-153+3594T>C MANE Select	NP_004320.2:n.-153+3594T>C