Canonical Allele Identifier: CA384901237
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426021
dbSNP Id: rs1085307413

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915402T>C , CM000674.2:g.51915402T>C GRCh38
NC_000012.11:g.52309186T>C , CM000674.1:g.52309186T>C GRCh37
NC_000012.10:g.50595453T>C NCBI36
NG_009549.1:g.12985T>C , LRG_543:g.12985T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.680T>C ENSP00000446724.2:p.Ile227Thr
ENST00000551576.6:c.950T>C ENSP00000455848.2:p.Ile317Thr
ENST00000552678.2:c.950T>C ENSP00000457394.2:p.Ile317Thr
ENST00000388922.9:c.950T>C MANE Select ENSP00000373574.4:p.Ile317Thr
ENST00000388922.8:c.950T>C ENSP00000373574.4:p.Ile317Thr
ENST00000419526.6:c.428T>C ENSP00000392492.2:p.Ile143Thr
ENST00000550683.5:c.992T>C ENSP00000447884.1:p.Ile331Thr
NM_000020.2:c.950T>C , LRG_543t1:c.950T>C NP_000011.2:p.Ile317Thr
NM_001077401.1:c.950T>C NP_001070869.1:p.Ile317Thr
XM_005269235.2:c.950T>C XP_005269292.1:p.Ile317Thr
XM_011539008.1:c.680T>C XP_011537310.1:p.Ile227Thr
XM_024449279.1:c.161T>C XP_024305047.1:p.Ile54Thr
NM_000020.3:c.950T>C MANE Select NP_000011.2:p.Ile317Thr
NM_001077401.2:c.950T>C NP_001070869.1:p.Ile317Thr