Canonical Allele Identifier: CA10612625

Gene: ACVR1

Linked Data

• ClinVar Variation Id: 331678
• ClinVar RCV Id: RCV000286536
• dbSNP Id: rs761727358
• gnomAD v2: 2-158593622-C-T
• gnomAD v3: 2-157737110-C-T
• gnomAD v4: 2-157737110-C-T
• MyVariant Identifiers: chr2:g.158593622C>T (hg19) ; chr2:g.157737110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157737110C>T , CM000664.2:g.157737110C>T	GRCh38
NC_000002.11:g.158593622C>T , CM000664.1:g.158593622C>T	GRCh37
NC_000002.10:g.158301868C>T	NCBI36
NG_008004.1:g.143002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681995.1:n.1550G>A
ENST00000682025.1:c.*421G>A	ENSP00000507086.1:n.*421G>A
ENST00000682300.1:c.*421G>A	ENSP00000507102.1:n.*421G>A
ENST00000682690.1:n.1968G>A
ENST00000683404.1:c.*638G>A	ENSP00000506824.1:n.*638G>A
ENST00000683426.1:c.*421G>A	ENSP00000507597.1:n.*421G>A
ENST00000683441.1:c.*421G>A	ENSP00000508189.1:n.*421G>A
ENST00000683487.1:c.*421G>A	ENSP00000507113.1:n.*421G>A
ENST00000683514.1:n.3771G>A
ENST00000683820.1:c.*421G>A	ENSP00000507727.1:n.*421G>A
ENST00000684104.1:n.2159G>A
ENST00000684348.1:c.*421G>A	ENSP00000508136.1:n.*421G>A
ENST00000684567.1:n.1196G>A
ENST00000684595.1:c.*421G>A	ENSP00000507730.1:n.*421G>A
ENST00000424669.6:c.*421G>A	ENSP00000400767.2:n.*421G>A
ENST00000434821.7:c.*421G>A MANE Select	ENSP00000405004.1:n.*421G>A
ENST00000539637.6:c.*421G>A	ENSP00000440091.2:n.*421G>A
ENST00000672582.1:c.*421G>A	ENSP00000500605.1:n.*421G>A
ENST00000673324.1:c.*421G>A	ENSP00000500109.1:n.*421G>A
ENST00000263640.7:c.*421G>A	ENSP00000263640.3:n.*421G>A
ENST00000409283.6:c.*421G>A	ENSP00000387273.2:n.*421G>A
ENST00000434821.5:c.*421G>A	ENSP00000405004.1:n.*421G>A
NM_001105.4:c.*421G>A	NP_001096.1:n.*421G>A
NM_001111067.2:c.*421G>A	NP_001104537.1:n.*421G>A
XM_005246939.2:c.*421G>A	XP_005246996.1:n.*421G>A
XM_005246940.2:c.*421G>A	XP_005246997.1:n.*421G>A
XM_006712825.2:c.*421G>A	XP_006712888.1:n.*421G>A
XM_011512106.1:c.*421G>A	XP_011510408.1:n.*421G>A
XM_011512107.1:c.*421G>A	XP_011510409.1:n.*421G>A
XM_011512108.1:c.*421G>A	XP_011510410.1:n.*421G>A
NM_001347663.1:c.*421G>A	NP_001334592.1:n.*421G>A
NM_001347664.1:c.*421G>A	NP_001334593.1:n.*421G>A
NM_001347665.1:c.*421G>A	NP_001334594.1:n.*421G>A
NM_001347666.1:c.*421G>A	NP_001334595.1:n.*421G>A
NM_001347667.1:c.*421G>A	NP_001334596.1:n.*421G>A
XM_006712825.4:c.*421G>A	XP_006712888.1:n.*421G>A
XM_011512108.3:c.*421G>A	XP_011510410.1:n.*421G>A
NM_001105.5:c.*421G>A	NP_001096.1:n.*421G>A
NM_001111067.4:c.*421G>A MANE Select	NP_001104537.1:n.*421G>A
NM_001347667.2:c.*421G>A	NP_001334596.1:n.*421G>A