Canonical Allele Identifier: CA1139662707

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 994236
• ClinVar RCV Id: RCV001287259
• dbSNP Id: rs1940909579
• ERepo: CA1139662707/MONDO:0010880/135

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919119A>T , CM000674.2:g.51919119A>T	GRCh38
NC_000012.11:g.52312903A>T , CM000674.1:g.52312903A>T	GRCh37
NC_000012.10:g.50599170A>T	NCBI36
NG_009549.1:g.16702A>T , LRG_543:g.16702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1107+4A>T	ENSP00000446724.2:n.1107+4A>T
ENST00000551576.6:c.1377+4A>T	ENSP00000455848.2:n.1377+4A>T
ENST00000552678.2:c.1381A>T	ENSP00000457394.2:p.Arg461Trp
ENST00000388922.9:c.1377+4A>T MANE Select	ENSP00000373574.4:n.1377+4A>T
ENST00000388922.8:c.1377+4A>T	ENSP00000373574.4:n.1377+4A>T
ENST00000419526.6:c.855+4A>T	ENSP00000392492.2:n.855+4A>T
ENST00000547632.1:n.656A>T
ENST00000550683.5:c.1419+4A>T	ENSP00000447884.1:n.1419+4A>T
ENST00000552678.1:c.386A>T
NM_000020.2:c.1377+4A>T , LRG_543t1:c.1377+4A>T	NP_000011.2:n.1377+4A>T
NM_001077401.1:c.1377+4A>T	NP_001070869.1:n.1377+4A>T
XM_005269235.2:c.1377+4A>T	XP_005269292.1:n.1377+4A>T
XM_011539008.1:c.1107+4A>T	XP_011537310.1:n.1107+4A>T
XM_024449279.1:c.588+4A>T	XP_024305047.1:n.588+4A>T
NM_000020.3:c.1377+4A>T MANE Select	NP_000011.2:n.1377+4A>T
NM_001077401.2:c.1377+4A>T	NP_001070869.1:n.1377+4A>T