Canonical Allele Identifier: CA384903687

Gene: ACVRL1

Linked Data

• COSMIC: COSM1299528
• MyVariant Identifiers: chr12:g.52312784A>G (hg19) ; chr12:g.51919000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919000A>G , CM000674.2:g.51919000A>G	GRCh38
NC_000012.11:g.52312784A>G , CM000674.1:g.52312784A>G	GRCh37
NC_000012.10:g.50599051A>G	NCBI36
NG_009549.1:g.16583A>G , LRG_543:g.16583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.992A>G	ENSP00000446724.2:p.Tyr331Cys
ENST00000551576.6:c.1262A>G	ENSP00000455848.2:p.Tyr421Cys
ENST00000552678.2:c.1262A>G	ENSP00000457394.2:p.Tyr421Cys
ENST00000388922.9:c.1262A>G MANE Select	ENSP00000373574.4:p.Tyr421Cys
ENST00000388922.8:c.1262A>G	ENSP00000373574.4:p.Tyr421Cys
ENST00000419526.6:c.740A>G	ENSP00000392492.2:p.Tyr247Cys
ENST00000547632.1:n.537A>G
ENST00000550683.5:c.1304A>G	ENSP00000447884.1:p.Tyr435Cys
ENST00000552678.1:c.267A>G
NM_000020.2:c.1262A>G , LRG_543t1:c.1262A>G	NP_000011.2:p.Tyr421Cys
NM_001077401.1:c.1262A>G	NP_001070869.1:p.Tyr421Cys
XM_005269235.2:c.1262A>G	XP_005269292.1:p.Tyr421Cys
XM_011539008.1:c.992A>G	XP_011537310.1:p.Tyr331Cys
XM_024449279.1:c.473A>G	XP_024305047.1:p.Tyr158Cys
NM_000020.3:c.1262A>G MANE Select	NP_000011.2:p.Tyr421Cys
NM_001077401.2:c.1262A>G	NP_001070869.1:p.Tyr421Cys