Canonical Allele Identifier: CA59255390
Gene: ACVR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157538407T>C , CM000664.2:g.157538407T>C GRCh38
NC_000002.11:g.158394919T>C , CM000664.1:g.158394919T>C GRCh37
NC_000002.10:g.158103165T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243349.13:c.1356+166A>G MANE Select ENSP00000243349.7:n.1356+166A>G
ENST00000243349.12:c.1356+166A>G ENSP00000243349.7:n.1356+166A>G
ENST00000335450.7:c.1116+166A>G ENSP00000335178.7:n.1116+166A>G
ENST00000348328.9:c.885+166A>G ENSP00000335139.6:n.885+166A>G
ENST00000409680.7:c.1206+166A>G ENSP00000387168.3:n.1206+166A>G
NM_001111031.1:c.1206+166A>G NP_001104501.1:n.1206+166A>G
NM_001111032.1:c.1116+166A>G NP_001104502.1:n.1116+166A>G
NM_001111033.1:c.885+166A>G NP_001104503.1:n.885+166A>G
NM_145259.2:c.1356+166A>G NP_660302.2:n.1356+166A>G
NM_145259.3:c.1356+166A>G MANE Select NP_660302.2:n.1356+166A>G
NM_001111032.2:c.1116+166A>G NP_001104502.1:n.1116+166A>G
NM_001111033.2:c.885+166A>G NP_001104503.1:n.885+166A>G
NM_001111031.2:c.1206+166A>G NP_001104501.1:n.1206+166A>G