Canonical Allele Identifier: CA1139662707
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994236
ClinVar RCV Id: RCV001287259
dbSNP Id: rs1940909579
ERepo: CA1139662707/MONDO:0010880/135
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51919119A>T , CM000674.2:g.51919119A>T GRCh38
NC_000012.11:g.52312903A>T , CM000674.1:g.52312903A>T GRCh37
NC_000012.10:g.50599170A>T NCBI36
NG_009549.1:g.16702A>T , LRG_543:g.16702A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.1107+4A>T ENSP00000446724.2:n.1107+4A>T
ENST00000551576.6:c.1377+4A>T ENSP00000455848.2:n.1377+4A>T
ENST00000552678.2:c.1381A>T ENSP00000457394.2:p.Arg461Trp
ENST00000388922.9:c.1377+4A>T MANE Select ENSP00000373574.4:n.1377+4A>T
ENST00000388922.8:c.1377+4A>T ENSP00000373574.4:n.1377+4A>T
ENST00000419526.6:c.855+4A>T ENSP00000392492.2:n.855+4A>T
ENST00000547632.1:n.656A>T
ENST00000550683.5:c.1419+4A>T ENSP00000447884.1:n.1419+4A>T
ENST00000552678.1:c.386A>T
NM_000020.2:c.1377+4A>T , LRG_543t1:c.1377+4A>T NP_000011.2:n.1377+4A>T
NM_001077401.1:c.1377+4A>T NP_001070869.1:n.1377+4A>T
XM_005269235.2:c.1377+4A>T XP_005269292.1:n.1377+4A>T
XM_011539008.1:c.1107+4A>T XP_011537310.1:n.1107+4A>T
XM_024449279.1:c.588+4A>T XP_024305047.1:n.588+4A>T
NM_000020.3:c.1377+4A>T MANE Select NP_000011.2:n.1377+4A>T
NM_001077401.2:c.1377+4A>T NP_001070869.1:n.1377+4A>T
Search 100 bp 5'
Search 100 bp 3'