Canonical Allele Identifier: CA2036269423

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915238A= , CM000674.2:g.51915238A=	GRCh38
NC_000012.11:g.52309022A= , CM000674.1:g.52309022A=	GRCh37
NC_000012.10:g.50595289A=	NCBI36
NG_009549.1:g.12821A= , LRG_543:g.12821A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.516A=	ENSP00000446724.2:p.Ser172=
ENST00000551576.6:c.786A=	ENSP00000455848.2:p.Ser262=
ENST00000552678.2:c.786A=	ENSP00000457394.2:p.Ser262=
ENST00000388922.9:c.786A= MANE Select	ENSP00000373574.4:p.Ser262=
ENST00000388922.8:c.786A=	ENSP00000373574.4:p.Ser262=
ENST00000419526.6:c.264A=	ENSP00000392492.2:p.Ser88=
ENST00000550683.5:c.828A=	ENSP00000447884.1:p.Ser276=
NM_000020.2:c.786A= , LRG_543t1:c.786A=	NP_000011.2:p.Ser262=
NM_001077401.1:c.786A=	NP_001070869.1:p.Ser262=
XM_005269235.2:c.786A=	XP_005269292.1:p.Ser262=
XM_011539008.1:c.516A=	XP_011537310.1:p.Ser172=
XM_024449279.1:c.-4A=	XP_024305047.1:n.-4A=
NM_000020.3:c.786A= MANE Select	NP_000011.2:p.Ser262=
NM_001077401.2:c.786A=	NP_001070869.1:p.Ser262=