Canonical Allele Identifier: CA322708
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212802
ClinVar RCV Id: RCV000198205 RCV000762899 RCV002381661
dbSNP Id: rs863223413
MyVariant Identifiers: chr12:g.52309234G>T (hg19) chr12:g.51915450G>T (hg38)
ERepo: CA322708/MONDO:0010880/135
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915450G>T , CM000674.2:g.51915450G>T GRCh38
NC_000012.11:g.52309234G>T , CM000674.1:g.52309234G>T GRCh37
NC_000012.10:g.50595501G>T NCBI36
NG_009549.1:g.13033G>T , LRG_543:g.13033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.728G>T ENSP00000446724.2:p.Ser243Ile
ENST00000551576.6:c.998G>T ENSP00000455848.2:p.Ser333Ile
ENST00000552678.2:c.998G>T ENSP00000457394.2:p.Ser333Ile
ENST00000388922.9:c.998G>T MANE Select ENSP00000373574.4:p.Ser333Ile
ENST00000388922.8:c.998G>T ENSP00000373574.4:p.Ser333Ile
ENST00000419526.6:c.476G>T ENSP00000392492.2:p.Ser159Ile
ENST00000550683.5:c.1040G>T ENSP00000447884.1:p.Ser347Ile
ENST00000552678.1:c.3G>T
NM_000020.2:c.998G>T , LRG_543t1:c.998G>T NP_000011.2:p.Ser333Ile
NM_001077401.1:c.998G>T NP_001070869.1:p.Ser333Ile
XM_005269235.2:c.998G>T XP_005269292.1:p.Ser333Ile
XM_011539008.1:c.728G>T XP_011537310.1:p.Ser243Ile
XM_024449279.1:c.209G>T XP_024305047.1:p.Ser70Ile
NM_000020.3:c.998G>T MANE Select NP_000011.2:p.Ser333Ile
NM_001077401.2:c.998G>T NP_001070869.1:p.Ser333Ile
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