Canonical Allele Identifier: CA2036242366

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921208C= , CM000674.2:g.51921208C=	GRCh38
NC_000012.11:g.52314992C= , CM000674.1:g.52314992C=	GRCh37
NC_000012.10:g.50601259C=	NCBI36
NG_009549.1:g.18791C= , LRG_543:g.18791C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*315C=	ENSP00000455848.2:n.*315C=
ENST00000388922.9:c.*315C= MANE Select	ENSP00000373574.4:n.*315C=
ENST00000550683.5:c.*315C=	ENSP00000447884.1:n.*315C=
NM_000020.2:c.*315C= , LRG_543t1:c.*315C=	NP_000011.2:n.*315C=
NM_001077401.1:c.*315C=	NP_001070869.1:n.*315C=
XM_005269235.2:c.*315C=	XP_005269292.1:n.*315C=
XM_011539008.1:c.*315C=	XP_011537310.1:n.*315C=
XM_024449279.1:c.*315C=	XP_024305047.1:n.*315C=
NM_000020.3:c.*315C= MANE Select	NP_000011.2:n.*315C=
NM_001077401.2:c.*315C=	NP_001070869.1:n.*315C=