Canonical Allele Identifier: CA204950

Gene: ACVR1

Linked Data

• ClinVar Variation Id: 208843
• ClinVar RCV Id: RCV000190876
• dbSNP Id: rs797045135
• MyVariant Identifiers: chr2:g.158630656A>G (hg19) ; chr2:g.157774144A>G (hg38)
• PubMed: PMID:21044902 ; PMID:21377447 ; PMID:24259422

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157774144A>G , CM000664.2:g.157774144A>G	GRCh38
NC_000002.11:g.158630656A>G , CM000664.1:g.158630656A>G	GRCh37
NC_000002.10:g.158338902A>G	NCBI36
NG_008004.1:g.105968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682025.1:c.587T>C	ENSP00000507086.1:p.Leu196Pro
ENST00000682300.1:c.587T>C	ENSP00000507102.1:p.Leu196Pro
ENST00000682690.1:n.604T>C
ENST00000683404.1:c.587T>C	ENSP00000506824.1:p.Leu196Pro
ENST00000683426.1:c.587T>C	ENSP00000507597.1:p.Leu196Pro
ENST00000683441.1:c.587T>C	ENSP00000508189.1:p.Leu196Pro
ENST00000683487.1:c.587T>C	ENSP00000507113.1:p.Leu196Pro
ENST00000683820.1:c.587T>C	ENSP00000507727.1:p.Leu196Pro
ENST00000684348.1:c.587T>C	ENSP00000508136.1:p.Leu196Pro
ENST00000684595.1:c.587T>C	ENSP00000507730.1:p.Leu196Pro
ENST00000424669.6:c.587T>C	ENSP00000400767.2:p.Leu196Pro
ENST00000434821.7:c.587T>C MANE Select	ENSP00000405004.1:p.Leu196Pro
ENST00000539637.6:c.587T>C	ENSP00000440091.2:p.Leu196Pro
ENST00000672582.1:c.587T>C	ENSP00000500605.1:p.Leu196Pro
ENST00000673324.1:c.587T>C	ENSP00000500109.1:p.Leu196Pro
ENST00000263640.7:c.587T>C	ENSP00000263640.3:p.Leu196Pro
ENST00000409283.6:c.587T>C	ENSP00000387273.2:p.Leu196Pro
ENST00000410057.6:c.587T>C	ENSP00000387127.2:p.Leu196Pro
ENST00000434821.5:c.587T>C	ENSP00000405004.1:p.Leu196Pro
NM_001105.4:c.587T>C	NP_001096.1:p.Leu196Pro
NM_001111067.2:c.587T>C	NP_001104537.1:p.Leu196Pro
XM_005246939.2:c.587T>C	XP_005246996.1:p.Leu196Pro
XM_005246940.2:c.587T>C	XP_005246997.1:p.Leu196Pro
XM_006712825.2:c.587T>C	XP_006712888.1:p.Leu196Pro
XM_011512106.1:c.587T>C	XP_011510408.1:p.Leu196Pro
XM_011512107.1:c.587T>C	XP_011510409.1:p.Leu196Pro
XM_011512108.1:c.587T>C	XP_011510410.1:p.Leu196Pro
NM_001347663.1:c.587T>C	NP_001334592.1:p.Leu196Pro
NM_001347664.1:c.587T>C	NP_001334593.1:p.Leu196Pro
NM_001347665.1:c.587T>C	NP_001334594.1:p.Leu196Pro
NM_001347666.1:c.587T>C	NP_001334595.1:p.Leu196Pro
NM_001347667.1:c.587T>C	NP_001334596.1:p.Leu196Pro
XM_006712825.4:c.587T>C	XP_006712888.1:p.Leu196Pro
XM_011512108.3:c.587T>C	XP_011510410.1:p.Leu196Pro
NM_001105.5:c.587T>C	NP_001096.1:p.Leu196Pro
NM_001111067.4:c.587T>C MANE Select	NP_001104537.1:p.Leu196Pro
NM_001347667.2:c.587T>C	NP_001334596.1:p.Leu196Pro