Canonical Allele Identifier: CA6573054

Gene: ACVRL1

Linked Data

• dbSNP Id: rs370718459
• ExAC: 12:52309794 A / G
• gnomAD v2: 12-52309794-A-G
• gnomAD v3: 12-51916010-A-G
• gnomAD v4: 12-51916010-A-G
• MyVariant Identifiers: chr12:g.52309794A>G (hg19) ; chr12:g.51916010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916010A>G , CM000674.2:g.51916010A>G	GRCh38
NC_000012.11:g.52309794A>G , CM000674.1:g.52309794A>G	GRCh37
NC_000012.10:g.50596061A>G	NCBI36
NG_009549.1:g.13593A>G , LRG_543:g.13593A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.779-26A>G	ENSP00000446724.2:n.779-26A>G
ENST00000551576.6:c.1049-26A>G	ENSP00000455848.2:n.1049-26A>G
ENST00000552678.2:c.1049-26A>G	ENSP00000457394.2:n.1049-26A>G
ENST00000388922.9:c.1049-26A>G MANE Select	ENSP00000373574.4:n.1049-26A>G
ENST00000388922.8:c.1049-26A>G	ENSP00000373574.4:n.1049-26A>G
ENST00000419526.6:c.527-26A>G	ENSP00000392492.2:n.527-26A>G
ENST00000547632.1:n.298A>G
ENST00000550683.5:c.1091-26A>G	ENSP00000447884.1:n.1091-26A>G
ENST00000552678.1:c.54-26A>G
NM_000020.2:c.1049-26A>G , LRG_543t1:c.1049-26A>G	NP_000011.2:n.1049-26A>G
NM_001077401.1:c.1049-26A>G	NP_001070869.1:n.1049-26A>G
XM_005269235.2:c.1049-26A>G	XP_005269292.1:n.1049-26A>G
XM_011539008.1:c.779-26A>G	XP_011537310.1:n.779-26A>G
XM_024449279.1:c.260-26A>G	XP_024305047.1:n.260-26A>G
NM_000020.3:c.1049-26A>G MANE Select	NP_000011.2:n.1049-26A>G
NM_001077401.2:c.1049-26A>G	NP_001070869.1:n.1049-26A>G