Canonical Allele Identifier: CA128484
Gene: ACVR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29597
ClinVar RCV Id: RCV000022434
dbSNP Id: rs387906591
MyVariant Identifiers: chr2:g.158630638C>A (hg19) chr2:g.157774126C>A (hg38)
PubMed: PMID:19330033 PMID:21567927
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157774126C>A , CM000664.2:g.157774126C>A GRCh38
NC_000002.11:g.158630638C>A , CM000664.1:g.158630638C>A GRCh37
NC_000002.10:g.158338884C>A NCBI36
NG_008004.1:g.105986G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682025.1:c.605G>T ENSP00000507086.1:p.Arg202Ile
ENST00000682300.1:c.605G>T ENSP00000507102.1:p.Arg202Ile
ENST00000682690.1:n.622G>T
ENST00000683404.1:c.605G>T ENSP00000506824.1:p.Arg202Ile
ENST00000683426.1:c.605G>T ENSP00000507597.1:p.Arg202Ile
ENST00000683441.1:c.605G>T ENSP00000508189.1:p.Arg202Ile
ENST00000683487.1:c.605G>T ENSP00000507113.1:p.Arg202Ile
ENST00000683820.1:c.605G>T ENSP00000507727.1:p.Arg202Ile
ENST00000684348.1:c.605G>T ENSP00000508136.1:p.Arg202Ile
ENST00000684595.1:c.605G>T ENSP00000507730.1:p.Arg202Ile
ENST00000424669.6:c.605G>T ENSP00000400767.2:p.Arg202Ile
ENST00000434821.7:c.605G>T MANE Select ENSP00000405004.1:p.Arg202Ile
ENST00000539637.6:c.605G>T ENSP00000440091.2:p.Arg202Ile
ENST00000672582.1:c.605G>T ENSP00000500605.1:p.Arg202Ile
ENST00000673324.1:c.605G>T ENSP00000500109.1:p.Arg202Ile
ENST00000263640.7:c.605G>T ENSP00000263640.3:p.Arg202Ile
ENST00000409283.6:c.605G>T ENSP00000387273.2:p.Arg202Ile
ENST00000410057.6:c.605G>T ENSP00000387127.2:p.Arg202Ile
ENST00000434821.5:c.605G>T ENSP00000405004.1:p.Arg202Ile
NM_001105.4:c.605G>T NP_001096.1:p.Arg202Ile
NM_001111067.2:c.605G>T NP_001104537.1:p.Arg202Ile
XM_005246939.2:c.605G>T XP_005246996.1:p.Arg202Ile
XM_005246940.2:c.605G>T XP_005246997.1:p.Arg202Ile
XM_006712825.2:c.605G>T XP_006712888.1:p.Arg202Ile
XM_011512106.1:c.605G>T XP_011510408.1:p.Arg202Ile
XM_011512107.1:c.605G>T XP_011510409.1:p.Arg202Ile
XM_011512108.1:c.605G>T XP_011510410.1:p.Arg202Ile
NM_001347663.1:c.605G>T NP_001334592.1:p.Arg202Ile
NM_001347664.1:c.605G>T NP_001334593.1:p.Arg202Ile
NM_001347665.1:c.605G>T NP_001334594.1:p.Arg202Ile
NM_001347666.1:c.605G>T NP_001334595.1:p.Arg202Ile
NM_001347667.1:c.605G>T NP_001334596.1:p.Arg202Ile
XM_006712825.4:c.605G>T XP_006712888.1:p.Arg202Ile
XM_011512108.3:c.605G>T XP_011510410.1:p.Arg202Ile
NM_001105.5:c.605G>T NP_001096.1:p.Arg202Ile
NM_001111067.4:c.605G>T MANE Select NP_001104537.1:p.Arg202Ile
NM_001347667.2:c.605G>T NP_001334596.1:p.Arg202Ile
Search 100 bp 5'
Search 100 bp 3'