Canonical Allele Identifier: CA2036267774

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913540C= , CM000674.2:g.51913540C=	GRCh38
NC_000012.11:g.52307324C= , CM000674.1:g.52307324C=	GRCh37
NC_000012.10:g.50593591C=	NCBI36
NG_009549.1:g.11123C= , LRG_543:g.11123C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+190C=	ENSP00000446724.2:n.355+190C=
ENST00000551576.6:c.314-19C=	ENSP00000455848.2:n.314-19C=
ENST00000552678.2:c.314-19C=	ENSP00000457394.2:n.314-19C=
ENST00000388922.9:c.314-19C= MANE Select	ENSP00000373574.4:n.314-19C=
ENST00000388922.8:c.314-19C=	ENSP00000373574.4:n.314-19C=
ENST00000419526.6:c.104-899C=	ENSP00000392492.2:n.104-899C=
ENST00000547400.5:c.355+190C=	ENSP00000446724.1:n.355+190C=
ENST00000550683.5:c.356-19C=	ENSP00000447884.1:n.356-19C=
NM_000020.2:c.314-19C= , LRG_543t1:c.314-19C=	NP_000011.2:n.314-19C=
NM_001077401.1:c.314-19C=	NP_001070869.1:n.314-19C=
XM_005269235.2:c.314-19C=	XP_005269292.1:n.314-19C=
XM_011539008.1:c.355+190C=	XP_011537310.1:n.355+190C=
XM_024449279.1:c.-376-19C=	XP_024305047.1:n.-376-19C=
NM_000020.3:c.314-19C= MANE Select	NP_000011.2:n.314-19C=
NM_001077401.2:c.314-19C=	NP_001070869.1:n.314-19C=