Canonical Allele Identifier: CA2036242369

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940972528
• gnomAD v3: 12-51921210-A-G
• gnomAD v4: 12-51921210-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921210A>G , CM000674.2:g.51921210A>G	GRCh38
NC_000012.11:g.52314994A>G , CM000674.1:g.52314994A>G	GRCh37
NC_000012.10:g.50601261A>G	NCBI36
NG_009549.1:g.18793A>G , LRG_543:g.18793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*317A>G	ENSP00000455848.2:n.*317A>G
ENST00000388922.9:c.*317A>G MANE Select	ENSP00000373574.4:n.*317A>G
ENST00000550683.5:c.*317A>G	ENSP00000447884.1:n.*317A>G
NM_000020.2:c.*317A>G , LRG_543t1:c.*317A>G	NP_000011.2:n.*317A>G
NM_001077401.1:c.*317A>G	NP_001070869.1:n.*317A>G
XM_005269235.2:c.*317A>G	XP_005269292.1:n.*317A>G
XM_011539008.1:c.*317A>G	XP_011537310.1:n.*317A>G
XM_024449279.1:c.*317A>G	XP_024305047.1:n.*317A>G
NM_000020.3:c.*317A>G MANE Select	NP_000011.2:n.*317A>G
NM_001077401.2:c.*317A>G	NP_001070869.1:n.*317A>G