Canonical Allele Identifier: CA605238803
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1382725107

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915183C>A , CM000674.2:g.51915183C>A GRCh38
NC_000012.11:g.52308967C>A , CM000674.1:g.52308967C>A GRCh37
NC_000012.10:g.50595234C>A NCBI36
NG_009549.1:g.12766C>A , LRG_543:g.12766C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.503-42C>A ENSP00000446724.2:n.503-42C>A
ENST00000551576.6:c.773-42C>A ENSP00000455848.2:n.773-42C>A
ENST00000552678.2:c.773-42C>A ENSP00000457394.2:n.773-42C>A
ENST00000388922.9:c.773-42C>A MANE Select ENSP00000373574.4:n.773-42C>A
ENST00000388922.8:c.773-42C>A ENSP00000373574.4:n.773-42C>A
ENST00000419526.6:c.251-42C>A ENSP00000392492.2:n.251-42C>A
ENST00000550683.5:c.815-42C>A ENSP00000447884.1:n.815-42C>A
NM_000020.2:c.773-42C>A , LRG_543t1:c.773-42C>A NP_000011.2:n.773-42C>A
NM_001077401.1:c.773-42C>A NP_001070869.1:n.773-42C>A
XM_005269235.2:c.773-42C>A XP_005269292.1:n.773-42C>A
XM_011539008.1:c.503-42C>A XP_011537310.1:n.503-42C>A
XM_024449279.1:c.-17-42C>A XP_024305047.1:n.-17-42C>A
NM_000020.3:c.773-42C>A MANE Select NP_000011.2:n.773-42C>A
NM_001077401.2:c.773-42C>A NP_001070869.1:n.773-42C>A