Canonical Allele Identifier: CA1918543

Gene: ACVR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157533956T>C , CM000664.2:g.157533956T>C	GRCh38
NC_000002.11:g.158390468T>C , CM000664.1:g.158390468T>C	GRCh37
NC_000002.10:g.158098714T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145259.3:c.1444A>G MANE Select	NP_660302.2:p.Ile482Val
ENST00000243349.13:c.1444A>G MANE Select	ENSP00000243349.7:p.Ile482Val
NM_001111031.1:c.1294A>G	NP_001104501.1:p.Ile432Val
NM_001111031.2:c.1294A>G	NP_001104501.1:p.Ile432Val
NM_001111032.1:c.1204A>G	NP_001104502.1:p.Ile402Val
NM_001111032.2:c.1204A>G	NP_001104502.1:p.Ile402Val
NM_001111033.1:c.973A>G	NP_001104503.1:p.Ile325Val
NM_001111033.2:c.973A>G	NP_001104503.1:p.Ile325Val
NM_145259.2:c.1444A>G	NP_660302.2:p.Ile482Val
ENST00000243349.12:c.1444A>G	ENSP00000243349.7:p.Ile482Val
ENST00000335450.7:c.1204A>G	ENSP00000335178.7:p.Ile402Val
ENST00000348328.9:c.973A>G	ENSP00000335139.6:p.Ile325Val
ENST00000409680.7:c.1294A>G	ENSP00000387168.3:p.Ile432Val