Canonical Allele Identifier: CA384906377

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920892-A-G
• MyVariant Identifiers: chr12:g.52314676A>G (hg19) ; chr12:g.51920892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920892A>G , CM000674.2:g.51920892A>G	GRCh38
NC_000012.11:g.52314676A>G , CM000674.1:g.52314676A>G	GRCh37
NC_000012.10:g.50600943A>G	NCBI36
NG_009549.1:g.18475A>G , LRG_543:g.18475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1241A>G	ENSP00000446724.2:p.Ter414Trp
ENST00000551576.6:c.1511A>G	ENSP00000455848.2:p.Ter504Trp
ENST00000388922.9:c.1511A>G MANE Select	ENSP00000373574.4:p.Ter504Trp
ENST00000388922.8:c.1511A>G	ENSP00000373574.4:p.Ter504Trp
ENST00000419526.6:c.989A>G	ENSP00000392492.2:p.Ter330Trp
ENST00000550683.5:c.1553A>G	ENSP00000447884.1:p.Ter518Trp
NM_000020.2:c.1511A>G , LRG_543t1:c.1511A>G	NP_000011.2:p.Ter504Trp
NM_001077401.1:c.1511A>G	NP_001070869.1:p.Ter504Trp
XM_005269235.2:c.1511A>G	XP_005269292.1:p.Ter504Trp
XM_011539008.1:c.1241A>G	XP_011537310.1:p.Ter414Trp
XM_024449279.1:c.722A>G	XP_024305047.1:p.Ter241Trp
NM_000020.3:c.1511A>G MANE Select	NP_000011.2:p.Ter504Trp
NM_001077401.2:c.1511A>G	NP_001070869.1:p.Ter504Trp