Canonical Allele Identifier: CA10612628

Gene: ACVR1

Linked Data

• ClinVar Variation Id: 331679
• ClinVar RCV Id: RCV000341239
• dbSNP Id: rs79598188
• gnomAD v2: 2-158593685-C-T
• gnomAD v3: 2-157737173-C-T
• gnomAD v4: 2-157737173-C-T
• MyVariant Identifiers: chr2:g.158593685C>T (hg19) ; chr2:g.157737173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157737173C>T , CM000664.2:g.157737173C>T	GRCh38
NC_000002.11:g.158593685C>T , CM000664.1:g.158593685C>T	GRCh37
NC_000002.10:g.158301931C>T	NCBI36
NG_008004.1:g.142939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681995.1:n.1487G>A
ENST00000682025.1:c.*358G>A	ENSP00000507086.1:n.*358G>A
ENST00000682300.1:c.*358G>A	ENSP00000507102.1:n.*358G>A
ENST00000682690.1:n.1905G>A
ENST00000683404.1:c.*575G>A	ENSP00000506824.1:n.*575G>A
ENST00000683426.1:c.*358G>A	ENSP00000507597.1:n.*358G>A
ENST00000683441.1:c.*358G>A	ENSP00000508189.1:n.*358G>A
ENST00000683487.1:c.*358G>A	ENSP00000507113.1:n.*358G>A
ENST00000683514.1:n.3708G>A
ENST00000683820.1:c.*358G>A	ENSP00000507727.1:n.*358G>A
ENST00000684104.1:n.2096G>A
ENST00000684348.1:c.*358G>A	ENSP00000508136.1:n.*358G>A
ENST00000684567.1:n.1133G>A
ENST00000684595.1:c.*358G>A	ENSP00000507730.1:n.*358G>A
ENST00000424669.6:c.*358G>A	ENSP00000400767.2:n.*358G>A
ENST00000434821.7:c.*358G>A MANE Select	ENSP00000405004.1:n.*358G>A
ENST00000539637.6:c.*358G>A	ENSP00000440091.2:n.*358G>A
ENST00000672582.1:c.*358G>A	ENSP00000500605.1:n.*358G>A
ENST00000673324.1:c.*358G>A	ENSP00000500109.1:n.*358G>A
ENST00000263640.7:c.*358G>A	ENSP00000263640.3:n.*358G>A
ENST00000409283.6:c.*358G>A	ENSP00000387273.2:n.*358G>A
ENST00000434821.5:c.*358G>A	ENSP00000405004.1:n.*358G>A
NM_001105.4:c.*358G>A	NP_001096.1:n.*358G>A
NM_001111067.2:c.*358G>A	NP_001104537.1:n.*358G>A
XM_005246939.2:c.*358G>A	XP_005246996.1:n.*358G>A
XM_005246940.2:c.*358G>A	XP_005246997.1:n.*358G>A
XM_006712825.2:c.*358G>A	XP_006712888.1:n.*358G>A
XM_011512106.1:c.*358G>A	XP_011510408.1:n.*358G>A
XM_011512107.1:c.*358G>A	XP_011510409.1:n.*358G>A
XM_011512108.1:c.*358G>A	XP_011510410.1:n.*358G>A
NM_001347663.1:c.*358G>A	NP_001334592.1:n.*358G>A
NM_001347664.1:c.*358G>A	NP_001334593.1:n.*358G>A
NM_001347665.1:c.*358G>A	NP_001334594.1:n.*358G>A
NM_001347666.1:c.*358G>A	NP_001334595.1:n.*358G>A
NM_001347667.1:c.*358G>A	NP_001334596.1:n.*358G>A
XM_006712825.4:c.*358G>A	XP_006712888.1:n.*358G>A
XM_011512108.3:c.*358G>A	XP_011510410.1:n.*358G>A
NM_001105.5:c.*358G>A	NP_001096.1:n.*358G>A
NM_001111067.4:c.*358G>A MANE Select	NP_001104537.1:n.*358G>A
NM_001347667.2:c.*358G>A	NP_001334596.1:n.*358G>A