Canonical Allele Identifier: CA384905684
Gene: ACVRL1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.51920817G>A
GRCh37 chr12:g.52314601G>A
Revel Score:
ENST00000388922 (MANE Select) 0.919
ENST00000267008 0.919
ENST00000550683 0.919
ENST00000548659 0.919
ENST00000419526 0.919
gnomAD v2:
12:52314601 G / A
gnomAD v3:
12:51920817 G / A
gnomAD v4:
chr12-51920817-G-A
Joint Max Group AF 6.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920817G>A , CM000674.2:g.51920817G>A GRCh38
NC_000012.11:g.52314601G>A , CM000674.1:g.52314601G>A GRCh37
NC_000012.10:g.50600868G>A NCBI36
NG_009549.1:g.18400G>A , LRG_543:g.18400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.1166G>A ENSP00000446724.2:p.Arg389Gln
ENST00000551576.6:c.1436G>A ENSP00000455848.2:p.Arg479Gln
ENST00000388922.9:c.1436G>A MANE Select ENSP00000373574.4:p.Arg479Gln
ENST00000388922.8:c.1436G>A ENSP00000373574.4:p.Arg479Gln
ENST00000419526.6:c.914G>A ENSP00000392492.2:p.Arg305Gln
ENST00000550683.5:c.1478G>A ENSP00000447884.1:p.Arg493Gln
NM_000020.2:c.1436G>A , LRG_543t1:c.1436G>A NP_000011.2:p.Arg479Gln
NM_001077401.1:c.1436G>A NP_001070869.1:p.Arg479Gln
XM_005269235.2:c.1436G>A XP_005269292.1:p.Arg479Gln
XM_011539008.1:c.1166G>A XP_011537310.1:p.Arg389Gln
XM_024449279.1:c.647G>A XP_024305047.1:p.Arg216Gln
NM_000020.3:c.1436G>A MANE Select NP_000011.2:p.Arg479Gln
NM_001077401.2:c.1436G>A NP_001070869.1:p.Arg479Gln
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