Canonical Allele Identifier: CA13774735
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439375
dbSNP Id: rs77709482

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51914237T>C , CM000674.2:g.51914237T>C GRCh38
NC_000012.11:g.52308021T>C , CM000674.1:g.52308021T>C GRCh37
NC_000012.10:g.50594288T>C NCBI36
NG_009549.1:g.11820T>C , LRG_543:g.11820T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.356-202T>C ENSP00000446724.2:n.356-202T>C
ENST00000551576.6:c.625+164T>C ENSP00000455848.2:n.625+164T>C
ENST00000552678.2:c.625+164T>C ENSP00000457394.2:n.625+164T>C
ENST00000388922.9:c.625+164T>C MANE Select ENSP00000373574.4:n.625+164T>C
ENST00000388922.8:c.625+164T>C ENSP00000373574.4:n.625+164T>C
ENST00000419526.6:c.104-202T>C ENSP00000392492.2:n.104-202T>C
ENST00000547400.5:c.356-202T>C ENSP00000446724.1:n.356-202T>C
ENST00000550683.5:c.667+164T>C ENSP00000447884.1:n.667+164T>C
NM_000020.2:c.625+164T>C , LRG_543t1:c.625+164T>C NP_000011.2:n.625+164T>C
NM_001077401.1:c.625+164T>C NP_001070869.1:n.625+164T>C
XM_005269235.2:c.625+164T>C XP_005269292.1:n.625+164T>C
XM_011539008.1:c.356-202T>C XP_011537310.1:n.356-202T>C
XM_024449279.1:c.-164-202T>C XP_024305047.1:n.-164-202T>C
NM_000020.3:c.625+164T>C MANE Select NP_000011.2:n.625+164T>C
NM_001077401.2:c.625+164T>C NP_001070869.1:n.625+164T>C