Canonical Allele Identifier: CA2036268649
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940772779

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51914226G>C , CM000674.2:g.51914226G>C GRCh38
NC_000012.11:g.52308010G>C , CM000674.1:g.52308010G>C GRCh37
NC_000012.10:g.50594277G>C NCBI36
NG_009549.1:g.11809G>C , LRG_543:g.11809G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.356-213G>C ENSP00000446724.2:n.356-213G>C
ENST00000551576.6:c.625+153G>C ENSP00000455848.2:n.625+153G>C
ENST00000552678.2:c.625+153G>C ENSP00000457394.2:n.625+153G>C
ENST00000388922.9:c.625+153G>C MANE Select ENSP00000373574.4:n.625+153G>C
ENST00000388922.8:c.625+153G>C ENSP00000373574.4:n.625+153G>C
ENST00000419526.6:c.104-213G>C ENSP00000392492.2:n.104-213G>C
ENST00000547400.5:c.356-213G>C ENSP00000446724.1:n.356-213G>C
ENST00000550683.5:c.667+153G>C ENSP00000447884.1:n.667+153G>C
NM_000020.2:c.625+153G>C , LRG_543t1:c.625+153G>C NP_000011.2:n.625+153G>C
NM_001077401.1:c.625+153G>C NP_001070869.1:n.625+153G>C
XM_005269235.2:c.625+153G>C XP_005269292.1:n.625+153G>C
XM_011539008.1:c.356-213G>C XP_011537310.1:n.356-213G>C
XM_024449279.1:c.-164-213G>C XP_024305047.1:n.-164-213G>C
NM_000020.3:c.625+153G>C MANE Select NP_000011.2:n.625+153G>C
NM_001077401.2:c.625+153G>C NP_001070869.1:n.625+153G>C