Canonical Allele Identifier: CA384902921

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309974T>G (hg19) ; chr12:g.51916190T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916190T>G , CM000674.2:g.51916190T>G	GRCh38
NC_000012.11:g.52309974T>G , CM000674.1:g.52309974T>G	GRCh37
NC_000012.10:g.50596241T>G	NCBI36
NG_009549.1:g.13773T>G , LRG_543:g.13773T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.933T>G	ENSP00000446724.2:p.Phe311Leu
ENST00000551576.6:c.1203T>G	ENSP00000455848.2:p.Phe401Leu
ENST00000552678.2:c.1203T>G	ENSP00000457394.2:p.Phe401Leu
ENST00000388922.9:c.1203T>G MANE Select	ENSP00000373574.4:p.Phe401Leu
ENST00000388922.8:c.1203T>G	ENSP00000373574.4:p.Phe401Leu
ENST00000419526.6:c.681T>G	ENSP00000392492.2:p.Phe227Leu
ENST00000547632.1:n.478T>G
ENST00000550683.5:c.1245T>G	ENSP00000447884.1:p.Phe415Leu
ENST00000552678.1:c.208T>G
NM_000020.2:c.1203T>G , LRG_543t1:c.1203T>G	NP_000011.2:p.Phe401Leu
NM_001077401.1:c.1203T>G	NP_001070869.1:p.Phe401Leu
XM_005269235.2:c.1203T>G	XP_005269292.1:p.Phe401Leu
XM_011539008.1:c.933T>G	XP_011537310.1:p.Phe311Leu
XM_024449279.1:c.414T>G	XP_024305047.1:p.Phe138Leu
NM_000020.3:c.1203T>G MANE Select	NP_000011.2:p.Phe401Leu
NM_001077401.2:c.1203T>G	NP_001070869.1:p.Phe401Leu