Canonical Allele Identifier: CA2036241949

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920847T= , CM000674.2:g.51920847T=	GRCh38
NC_000012.11:g.52314631T= , CM000674.1:g.52314631T=	GRCh37
NC_000012.10:g.50600898T=	NCBI36
NG_009549.1:g.18430T= , LRG_543:g.18430T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1196T=	ENSP00000446724.2:p.Leu399=
ENST00000551576.6:c.1466T=	ENSP00000455848.2:p.Leu489=
ENST00000388922.9:c.1466T= MANE Select	ENSP00000373574.4:p.Leu489=
ENST00000388922.8:c.1466T=	ENSP00000373574.4:p.Leu489=
ENST00000419526.6:c.944T=	ENSP00000392492.2:p.Leu315=
ENST00000550683.5:c.1508T=	ENSP00000447884.1:p.Leu503=
NM_000020.2:c.1466T= , LRG_543t1:c.1466T=	NP_000011.2:p.Leu489=
NM_001077401.1:c.1466T=	NP_001070869.1:p.Leu489=
XM_005269235.2:c.1466T=	XP_005269292.1:p.Leu489=
XM_011539008.1:c.1196T=	XP_011537310.1:p.Leu399=
XM_024449279.1:c.677T=	XP_024305047.1:p.Leu226=
NM_000020.3:c.1466T= MANE Select	NP_000011.2:p.Leu489=
NM_001077401.2:c.1466T=	NP_001070869.1:p.Leu489=