Canonical Allele Identifier: CA254377
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8248
ClinVar RCV Id: RCV000008732
dbSNP Id: rs121909286

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916180T>A , CM000674.2:g.51916180T>A GRCh38
NC_000012.11:g.52309964T>A , CM000674.1:g.52309964T>A GRCh37
NC_000012.10:g.50596231T>A NCBI36
NG_009549.1:g.13763T>A , LRG_543:g.13763T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1193T>A MANE Select ENSP00000373574.4:p.Ile398Asn
ENST00000388922.8:c.1193T>A ENSP00000373574.4:p.Ile398Asn
ENST00000419526.6:c.671T>A ENSP00000392492.2:p.Ile224Asn
ENST00000547632.1:n.468T>A
ENST00000550683.5:c.1235T>A ENSP00000447884.1:p.Ile412Asn
ENST00000552678.1:n.198T>A
NM_000020.2:c.1193T>A , LRG_543t1:c.1193T>A NP_000011.2:p.Ile398Asn
NM_001077401.1:c.1193T>A NP_001070869.1:p.Ile398Asn
XM_005269235.2:c.1193T>A XP_005269292.1:p.Ile398Asn
XM_011539008.1:c.923T>A XP_011537310.1:p.Ile308Asn
XM_024449279.1:c.404T>A XP_024305047.1:p.Ile135Asn
NM_000020.3:c.1193T>A MANE Select NP_000011.2:p.Ile398Asn
NM_001077401.2:c.1193T>A NP_001070869.1:p.Ile398Asn