Canonical Allele Identifier: CA2036269061

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914499A= , CM000674.2:g.51914499A=	GRCh38
NC_000012.11:g.52308283A= , CM000674.1:g.52308283A=	GRCh37
NC_000012.10:g.50594550A=	NCBI36
NG_009549.1:g.12082A= , LRG_543:g.12082A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.416A=	ENSP00000446724.2:p.Lys139=
ENST00000551576.6:c.686A=	ENSP00000455848.2:p.Lys229=
ENST00000552678.2:c.686A=	ENSP00000457394.2:p.Lys229=
ENST00000388922.9:c.686A= MANE Select	ENSP00000373574.4:p.Lys229=
ENST00000388922.8:c.686A=	ENSP00000373574.4:p.Lys229=
ENST00000419526.6:c.164A=	ENSP00000392492.2:p.Lys55=
ENST00000547400.5:c.416A=	ENSP00000446724.1:p.Lys139=
ENST00000550683.5:c.728A=	ENSP00000447884.1:p.Lys243=
NM_000020.2:c.686A= , LRG_543t1:c.686A=	NP_000011.2:p.Lys229=
NM_001077401.1:c.686A=	NP_001070869.1:p.Lys229=
XM_005269235.2:c.686A=	XP_005269292.1:p.Lys229=
XM_011539008.1:c.416A=	XP_011537310.1:p.Lys139=
XM_024449279.1:c.-104A=	XP_024305047.1:n.-104A=
NM_000020.3:c.686A= MANE Select	NP_000011.2:p.Lys229=
NM_001077401.2:c.686A=	NP_001070869.1:p.Lys229=