Canonical Allele Identifier: CA59255775

Gene: ACVR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157542526G>C , CM000664.2:g.157542526G>C	GRCh38
NC_000002.11:g.158399038G>C , CM000664.1:g.158399038G>C	GRCh37
NC_000002.10:g.158107284G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145259.3:c.1100+180C>G MANE Select	NP_660302.2:n.1100+180C>G
ENST00000243349.13:c.1100+180C>G MANE Select	ENSP00000243349.7:n.1100+180C>G
NM_001111031.1:c.950+180C>G	NP_001104501.1:n.950+180C>G
NM_001111031.2:c.950+180C>G	NP_001104501.1:n.950+180C>G
NM_001111032.1:c.860+180C>G	NP_001104502.1:n.860+180C>G
NM_001111032.2:c.860+180C>G	NP_001104502.1:n.860+180C>G
NM_001111033.1:c.629+180C>G	NP_001104503.1:n.629+180C>G
NM_001111033.2:c.629+180C>G	NP_001104503.1:n.629+180C>G
NM_145259.2:c.1100+180C>G	NP_660302.2:n.1100+180C>G
ENST00000243349.12:c.1100+180C>G	ENSP00000243349.7:n.1100+180C>G
ENST00000335450.7:c.860+180C>G	ENSP00000335178.7:n.860+180C>G
ENST00000348328.9:c.629+180C>G	ENSP00000335139.6:n.629+180C>G
ENST00000409680.7:c.950+180C>G	ENSP00000387168.3:n.950+180C>G