Canonical Allele Identifier: CA384902182

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309858G>A (hg19) ; chr12:g.51916074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916074G>A , CM000674.2:g.51916074G>A	GRCh38
NC_000012.11:g.52309858G>A , CM000674.1:g.52309858G>A	GRCh37
NC_000012.10:g.50596125G>A	NCBI36
NG_009549.1:g.13657G>A , LRG_543:g.13657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.817G>A	ENSP00000446724.2:p.Asp273Asn
ENST00000551576.6:c.1087G>A	ENSP00000455848.2:p.Asp363Asn
ENST00000552678.2:c.1087G>A	ENSP00000457394.2:p.Asp363Asn
ENST00000388922.9:c.1087G>A MANE Select	ENSP00000373574.4:p.Asp363Asn
ENST00000388922.8:c.1087G>A	ENSP00000373574.4:p.Asp363Asn
ENST00000419526.6:c.565G>A	ENSP00000392492.2:p.Asp189Asn
ENST00000547632.1:n.362G>A
ENST00000550683.5:c.1129G>A	ENSP00000447884.1:p.Asp377Asn
ENST00000552678.1:c.92G>A
NM_000020.2:c.1087G>A , LRG_543t1:c.1087G>A	NP_000011.2:p.Asp363Asn
NM_001077401.1:c.1087G>A	NP_001070869.1:p.Asp363Asn
XM_005269235.2:c.1087G>A	XP_005269292.1:p.Asp363Asn
XM_011539008.1:c.817G>A	XP_011537310.1:p.Asp273Asn
XM_024449279.1:c.298G>A	XP_024305047.1:p.Asp100Asn
NM_000020.3:c.1087G>A MANE Select	NP_000011.2:p.Asp363Asn
NM_001077401.2:c.1087G>A	NP_001070869.1:p.Asp363Asn