Canonical Allele Identifier: CA349189266

Gene: ACVR1

Linked Data

• MyVariant Identifiers: chr2:g.158617391C>G (hg19) ; chr2:g.157760879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157760879C>G , CM000664.2:g.157760879C>G	GRCh38
NC_000002.11:g.158617391C>G , CM000664.1:g.158617391C>G	GRCh37
NC_000002.10:g.158325637C>G	NCBI36
NG_008004.1:g.119233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681995.1:n.863+1G>C
ENST00000682025.1:c.1264+1G>C	ENSP00000507086.1:n.1264+1G>C
ENST00000682300.1:c.1264+1G>C	ENSP00000507102.1:n.1264+1G>C
ENST00000682690.1:n.1281+1G>C
ENST00000683404.1:c.1265G>C	ENSP00000506824.1:p.Gly422Ala
ENST00000683426.1:c.1264+1G>C	ENSP00000507597.1:n.1264+1G>C
ENST00000683441.1:c.1264+1G>C	ENSP00000508189.1:n.1264+1G>C
ENST00000683487.1:c.1264+1G>C	ENSP00000507113.1:n.1264+1G>C
ENST00000683820.1:c.1264+1G>C	ENSP00000507727.1:n.1264+1G>C
ENST00000684104.1:n.1472+1G>C
ENST00000684348.1:c.1264+1G>C	ENSP00000508136.1:n.1264+1G>C
ENST00000684567.1:n.509+1G>C
ENST00000684595.1:c.1264+1G>C	ENSP00000507730.1:n.1264+1G>C
ENST00000424669.6:c.1264+1G>C	ENSP00000400767.2:n.1264+1G>C
ENST00000434821.7:c.1264+1G>C MANE Select	ENSP00000405004.1:n.1264+1G>C
ENST00000539637.6:c.1264+1G>C	ENSP00000440091.2:n.1264+1G>C
ENST00000672582.1:c.1264+1G>C	ENSP00000500605.1:n.1264+1G>C
ENST00000673324.1:c.1264+1G>C	ENSP00000500109.1:n.1264+1G>C
ENST00000263640.7:c.1264+1G>C	ENSP00000263640.3:n.1264+1G>C
ENST00000409283.6:c.1264+1G>C	ENSP00000387273.2:n.1264+1G>C
ENST00000410057.6:c.1264+1G>C	ENSP00000387127.2:n.1264+1G>C
ENST00000434821.5:c.1264+1G>C	ENSP00000405004.1:n.1264+1G>C
NM_001105.4:c.1264+1G>C	NP_001096.1:n.1264+1G>C
NM_001111067.2:c.1264+1G>C	NP_001104537.1:n.1264+1G>C
XM_005246939.2:c.1264+1G>C	XP_005246996.1:n.1264+1G>C
XM_005246940.2:c.1264+1G>C	XP_005246997.1:n.1264+1G>C
XM_006712825.2:c.1264+1G>C	XP_006712888.1:n.1264+1G>C
XM_011512106.1:c.1264+1G>C	XP_011510408.1:n.1264+1G>C
XM_011512107.1:c.1264+1G>C	XP_011510409.1:n.1264+1G>C
XM_011512108.1:c.1264+1G>C	XP_011510410.1:n.1264+1G>C
NM_001347663.1:c.1264+1G>C	NP_001334592.1:n.1264+1G>C
NM_001347664.1:c.1264+1G>C	NP_001334593.1:n.1264+1G>C
NM_001347665.1:c.1264+1G>C	NP_001334594.1:n.1264+1G>C
NM_001347666.1:c.1264+1G>C	NP_001334595.1:n.1264+1G>C
NM_001347667.1:c.1264+1G>C	NP_001334596.1:n.1264+1G>C
XM_006712825.4:c.1264+1G>C	XP_006712888.1:n.1264+1G>C
XM_011512108.3:c.1264+1G>C	XP_011510410.1:n.1264+1G>C
NM_001105.5:c.1264+1G>C	NP_001096.1:n.1264+1G>C
NM_001111067.4:c.1264+1G>C MANE Select	NP_001104537.1:n.1264+1G>C
NM_001347667.2:c.1264+1G>C	NP_001334596.1:n.1264+1G>C