Canonical Allele Identifier: CA384898030

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 618515
• ClinVar RCV Id: RCV000756970 ; RCV003768272
• dbSNP Id: rs775754117
• gnomAD v4: 12-51913301-C-G
• MyVariant Identifiers: chr12:g.52307085C>G (hg19) ; chr12:g.51913301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913301C>G , CM000674.2:g.51913301C>G	GRCh38
NC_000012.11:g.52307085C>G , CM000674.1:g.52307085C>G	GRCh37
NC_000012.10:g.50593352C>G	NCBI36
NG_009549.1:g.10884C>G , LRG_543:g.10884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.306C>G	ENSP00000446724.2:p.Tyr102Ter
ENST00000551576.6:c.264C>G	ENSP00000455848.2:p.Tyr88Ter
ENST00000552678.2:c.264C>G	ENSP00000457394.2:p.Tyr88Ter
ENST00000388922.9:c.264C>G MANE Select	ENSP00000373574.4:p.Tyr88Ter
ENST00000388922.8:c.264C>G	ENSP00000373574.4:p.Tyr88Ter
ENST00000419526.6:c.103+766C>G	ENSP00000392492.2:n.103+766C>G
ENST00000547400.5:c.306C>G	ENSP00000446724.1:p.Tyr102Ter
ENST00000550683.5:c.306C>G	ENSP00000447884.1:p.Tyr102Ter
ENST00000551576.5:c.264C>G	ENSP00000455848.1:p.Tyr88Ter
NM_000020.2:c.264C>G , LRG_543t1:c.264C>G	NP_000011.2:p.Tyr88Ter
NM_001077401.1:c.264C>G	NP_001070869.1:p.Tyr88Ter
XM_005269235.2:c.264C>G	XP_005269292.1:p.Tyr88Ter
XM_011539008.1:c.306C>G	XP_011537310.1:p.Tyr102Ter
XM_024449279.1:c.-426C>G	XP_024305047.1:n.-426C>G
NM_000020.3:c.264C>G MANE Select	NP_000011.2:p.Tyr88Ter
NM_001077401.2:c.264C>G	NP_001070869.1:p.Tyr88Ter