Canonical Allele Identifier: CA2618859887

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51919120-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919120G>A , CM000674.2:g.51919120G>A	GRCh38
NC_000012.11:g.52312904G>A , CM000674.1:g.52312904G>A	GRCh37
NC_000012.10:g.50599171G>A	NCBI36
NG_009549.1:g.16703G>A , LRG_543:g.16703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1107+5G>A	ENSP00000446724.2:n.1107+5G>A
ENST00000551576.6:c.1377+5G>A	ENSP00000455848.2:n.1377+5G>A
ENST00000552678.2:c.1382G>A	ENSP00000457394.2:p.Arg461Lys
ENST00000388922.9:c.1377+5G>A MANE Select	ENSP00000373574.4:n.1377+5G>A
ENST00000388922.8:c.1377+5G>A	ENSP00000373574.4:n.1377+5G>A
ENST00000419526.6:c.855+5G>A	ENSP00000392492.2:n.855+5G>A
ENST00000547632.1:n.657G>A
ENST00000550683.5:c.1419+5G>A	ENSP00000447884.1:n.1419+5G>A
ENST00000552678.1:c.387G>A
NM_000020.2:c.1377+5G>A , LRG_543t1:c.1377+5G>A	NP_000011.2:n.1377+5G>A
NM_001077401.1:c.1377+5G>A	NP_001070869.1:n.1377+5G>A
XM_005269235.2:c.1377+5G>A	XP_005269292.1:n.1377+5G>A
XM_011539008.1:c.1107+5G>A	XP_011537310.1:n.1107+5G>A
XM_024449279.1:c.588+5G>A	XP_024305047.1:n.588+5G>A
NM_000020.3:c.1377+5G>A MANE Select	NP_000011.2:n.1377+5G>A
NM_001077401.2:c.1377+5G>A	NP_001070869.1:n.1377+5G>A