Canonical Allele Identifier: CA2036236907

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916114T= , CM000674.2:g.51916114T=	GRCh38
NC_000012.11:g.52309898T= , CM000674.1:g.52309898T=	GRCh37
NC_000012.10:g.50596165T=	NCBI36
NG_009549.1:g.13697T= , LRG_543:g.13697T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1127T= MANE Select	NP_000011.2:p.Met376=
ENST00000388922.9:c.1127T= MANE Select	ENSP00000373574.4:p.Met376=
NM_000020.2:c.1127T= , LRG_543t1:c.1127T=	NP_000011.2:p.Met376=
NM_001077401.1:c.1127T=	NP_001070869.1:p.Met376=
NM_001077401.2:c.1127T=	NP_001070869.1:p.Met376=
ENST00000388922.8:c.1127T=	ENSP00000373574.4:p.Met376=
ENST00000419526.6:c.605T=	ENSP00000392492.2:p.Met202=
ENST00000547400.6:c.857T=	ENSP00000446724.2:p.Met286=
ENST00000547632.1:n.402T=
ENST00000550683.5:c.1169T=	ENSP00000447884.1:p.Met390=
ENST00000551576.6:c.1127T=	ENSP00000455848.2:p.Met376=
ENST00000552678.1:c.132T=
ENST00000552678.2:c.1127T=	ENSP00000457394.2:p.Met376=
XM_005269235.2:c.1127T=	XP_005269292.1:p.Met376=
XM_011539008.1:c.857T=	XP_011537310.1:p.Met286=
XM_024449279.1:c.338T=	XP_024305047.1:p.Met113=