Canonical Allele Identifier: CA1918689

Gene: ACVR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157544458A>C , CM000664.2:g.157544458A>C	GRCh38
NC_000002.11:g.158400970A>C , CM000664.1:g.158400970A>C	GRCh37
NC_000002.10:g.158109216A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243349.13:c.930T>G MANE Select	ENSP00000243349.7:p.Ile310Met
ENST00000243349.12:c.930T>G	ENSP00000243349.7:p.Ile310Met
ENST00000335450.7:c.690T>G	ENSP00000335178.7:p.Ile230Met
ENST00000348328.9:c.459T>G	ENSP00000335139.6:p.Ile153Met
ENST00000409680.7:c.780T>G	ENSP00000387168.3:p.Ile260Met
NM_001111031.1:c.780T>G	NP_001104501.1:p.Ile260Met
NM_001111032.1:c.690T>G	NP_001104502.1:p.Ile230Met
NM_001111033.1:c.459T>G	NP_001104503.1:p.Ile153Met
NM_145259.2:c.930T>G	NP_660302.2:p.Ile310Met
NM_145259.3:c.930T>G MANE Select	NP_660302.2:p.Ile310Met
NM_001111032.2:c.690T>G	NP_001104502.1:p.Ile230Met
NM_001111033.2:c.459T>G	NP_001104503.1:p.Ile153Met
NM_001111031.2:c.780T>G	NP_001104501.1:p.Ile260Met