Canonical Allele Identifier: CA2036242240

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1015218132
• gnomAD v4: 12-51921037-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921037A>C , CM000674.2:g.51921037A>C	GRCh38
NC_000012.11:g.52314821A>C , CM000674.1:g.52314821A>C	GRCh37
NC_000012.10:g.50601088A>C	NCBI36
NG_009549.1:g.18620A>C , LRG_543:g.18620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*144A>C	ENSP00000455848.2:n.*144A>C
ENST00000388922.9:c.*144A>C MANE Select	ENSP00000373574.4:n.*144A>C
ENST00000388922.8:c.*144A>C	ENSP00000373574.4:n.*144A>C
ENST00000419526.6:c.*144A>C	ENSP00000392492.2:n.*144A>C
ENST00000550683.5:c.*144A>C	ENSP00000447884.1:n.*144A>C
NM_000020.2:c.*144A>C , LRG_543t1:c.*144A>C	NP_000011.2:n.*144A>C
NM_001077401.1:c.*144A>C	NP_001070869.1:n.*144A>C
XM_005269235.2:c.*144A>C	XP_005269292.1:n.*144A>C
XM_011539008.1:c.*144A>C	XP_011537310.1:n.*144A>C
XM_024449279.1:c.*144A>C	XP_024305047.1:n.*144A>C
NM_000020.3:c.*144A>C MANE Select	NP_000011.2:n.*144A>C
NM_001077401.2:c.*144A>C	NP_001070869.1:n.*144A>C