Canonical Allele Identifier: CA384906013

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426040
• ClinVar RCV Id: RCV000488710 ; RCV001262033 ; RCV002395186 ; RCV003480652
• dbSNP Id: rs1085307429
• MyVariant Identifiers: chr12:g.52314633C>T (hg19) ; chr12:g.51920849C>T (hg38)
• ERepo: CA384906013/MONDO:0010880/135
• PubMed: PMID:11484689 ; PMID:20056902 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920849C>T , CM000674.2:g.51920849C>T	GRCh38
NC_000012.11:g.52314633C>T , CM000674.1:g.52314633C>T	GRCh37
NC_000012.10:g.50600900C>T	NCBI36
NG_009549.1:g.18432C>T , LRG_543:g.18432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1198C>T	ENSP00000446724.2:p.Gln400Ter
ENST00000551576.6:c.1468C>T	ENSP00000455848.2:p.Gln490Ter
ENST00000388922.9:c.1468C>T MANE Select	ENSP00000373574.4:p.Gln490Ter
ENST00000388922.8:c.1468C>T	ENSP00000373574.4:p.Gln490Ter
ENST00000419526.6:c.946C>T	ENSP00000392492.2:p.Gln316Ter
ENST00000550683.5:c.1510C>T	ENSP00000447884.1:p.Gln504Ter
NM_000020.2:c.1468C>T , LRG_543t1:c.1468C>T	NP_000011.2:p.Gln490Ter
NM_001077401.1:c.1468C>T	NP_001070869.1:p.Gln490Ter
XM_005269235.2:c.1468C>T	XP_005269292.1:p.Gln490Ter
XM_011539008.1:c.1198C>T	XP_011537310.1:p.Gln400Ter
XM_024449279.1:c.679C>T	XP_024305047.1:p.Gln227Ter
NM_000020.3:c.1468C>T MANE Select	NP_000011.2:p.Gln490Ter
NM_001077401.2:c.1468C>T	NP_001070869.1:p.Gln490Ter