Canonical Allele Identifier: CA6572917

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1640498
• ClinVar RCV Id: RCV003128847 ; RCV002153084
• dbSNP Id: rs369436815
• ExAC: 12:52307540 G / A
• gnomAD v2: 12-52307540-G-A
• gnomAD v3: 12-51913756-G-A
• gnomAD v4: 12-51913756-G-A
• MyVariant Identifiers: chr12:g.52307540G>A (hg19) ; chr12:g.51913756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913756G>A , CM000674.2:g.51913756G>A	GRCh38
NC_000012.11:g.52307540G>A , CM000674.1:g.52307540G>A	GRCh37
NC_000012.10:g.50593807G>A	NCBI36
NG_009549.1:g.11339G>A , LRG_543:g.11339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+406G>A	ENSP00000446724.2:n.355+406G>A
ENST00000551576.6:c.511G>A	ENSP00000455848.2:p.Asp171Asn
ENST00000552678.2:c.511G>A	ENSP00000457394.2:p.Asp171Asn
ENST00000388922.9:c.511G>A MANE Select	ENSP00000373574.4:p.Asp171Asn
ENST00000388922.8:c.511G>A	ENSP00000373574.4:p.Asp171Asn
ENST00000419526.6:c.104-683G>A	ENSP00000392492.2:n.104-683G>A
ENST00000547400.5:c.355+406G>A	ENSP00000446724.1:n.355+406G>A
ENST00000550683.5:c.553G>A	ENSP00000447884.1:p.Asp185Asn
NM_000020.2:c.511G>A , LRG_543t1:c.511G>A	NP_000011.2:p.Asp171Asn
NM_001077401.1:c.511G>A	NP_001070869.1:p.Asp171Asn
XM_005269235.2:c.511G>A	XP_005269292.1:p.Asp171Asn
XM_011539008.1:c.355+406G>A	XP_011537310.1:n.355+406G>A
XM_024449279.1:c.-179G>A	XP_024305047.1:n.-179G>A
NM_000020.3:c.511G>A MANE Select	NP_000011.2:p.Asp171Asn
NM_001077401.2:c.511G>A	NP_001070869.1:p.Asp171Asn