Canonical Allele Identifier: CA59254985

Gene: ACVR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157534254G>A , CM000664.2:g.157534254G>A	GRCh38
NC_000002.11:g.158390766G>A , CM000664.1:g.158390766G>A	GRCh37
NC_000002.10:g.158099012G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243349.13:c.1357-211C>T MANE Select	ENSP00000243349.7:n.1357-211C>T
ENST00000243349.12:c.1357-211C>T	ENSP00000243349.7:n.1357-211C>T
ENST00000335450.7:c.1117-211C>T	ENSP00000335178.7:n.1117-211C>T
ENST00000348328.9:c.886-211C>T	ENSP00000335139.6:n.886-211C>T
ENST00000409680.7:c.1207-211C>T	ENSP00000387168.3:n.1207-211C>T
NM_001111031.1:c.1207-211C>T	NP_001104501.1:n.1207-211C>T
NM_001111032.1:c.1117-211C>T	NP_001104502.1:n.1117-211C>T
NM_001111033.1:c.886-211C>T	NP_001104503.1:n.886-211C>T
NM_145259.2:c.1357-211C>T	NP_660302.2:n.1357-211C>T
NM_145259.3:c.1357-211C>T MANE Select	NP_660302.2:n.1357-211C>T
NM_001111032.2:c.1117-211C>T	NP_001104502.1:n.1117-211C>T
NM_001111033.2:c.886-211C>T	NP_001104503.1:n.886-211C>T
NM_001111031.2:c.1207-211C>T	NP_001104501.1:n.1207-211C>T