Canonical Allele Identifier: CA384900014

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52308256T>G (hg19) ; chr12:g.51914472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914472T>G , CM000674.2:g.51914472T>G	GRCh38
NC_000012.11:g.52308256T>G , CM000674.1:g.52308256T>G	GRCh37
NC_000012.10:g.50594523T>G	NCBI36
NG_009549.1:g.12055T>G , LRG_543:g.12055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.389T>G	ENSP00000446724.2:p.Leu130Trp
ENST00000551576.6:c.659T>G	ENSP00000455848.2:p.Leu220Trp
ENST00000552678.2:c.659T>G	ENSP00000457394.2:p.Leu220Trp
ENST00000388922.9:c.659T>G MANE Select	ENSP00000373574.4:p.Leu220Trp
ENST00000388922.8:c.659T>G	ENSP00000373574.4:p.Leu220Trp
ENST00000419526.6:c.137T>G	ENSP00000392492.2:p.Leu46Trp
ENST00000547400.5:c.389T>G	ENSP00000446724.1:p.Leu130Trp
ENST00000550683.5:c.701T>G	ENSP00000447884.1:p.Leu234Trp
NM_000020.2:c.659T>G , LRG_543t1:c.659T>G	NP_000011.2:p.Leu220Trp
NM_001077401.1:c.659T>G	NP_001070869.1:p.Leu220Trp
XM_005269235.2:c.659T>G	XP_005269292.1:p.Leu220Trp
XM_011539008.1:c.389T>G	XP_011537310.1:p.Leu130Trp
XM_024449279.1:c.-131T>G	XP_024305047.1:n.-131T>G
NM_000020.3:c.659T>G MANE Select	NP_000011.2:p.Leu220Trp
NM_001077401.2:c.659T>G	NP_001070869.1:p.Leu220Trp