Canonical Allele Identifier: CA6572777

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 850758
• ClinVar RCV Id: RCV001054999
• dbSNP Id: rs373062714
• ExAC: 12:52306263 C / T
• gnomAD v2: 12-52306263-C-T
• gnomAD v3: 12-51912479-C-T
• gnomAD v4: 12-51912479-C-T
• MyVariant Identifiers: chr12:g.52306263C>T (hg19) ; chr12:g.51912479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912479C>T , CM000674.2:g.51912479C>T	GRCh38
NC_000012.11:g.52306263C>T , CM000674.1:g.52306263C>T	GRCh37
NC_000012.10:g.50592530C>T	NCBI36
NG_009549.1:g.10062C>T , LRG_543:g.10062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.47C>T	ENSP00000446724.2:p.Thr16Ile
ENST00000551576.6:c.5C>T	ENSP00000455848.2:p.Thr2Ile
ENST00000552678.2:c.5C>T	ENSP00000457394.2:p.Thr2Ile
ENST00000388922.9:c.5C>T MANE Select	ENSP00000373574.4:p.Thr2Ile
ENST00000388922.8:c.5C>T	ENSP00000373574.4:p.Thr2Ile
ENST00000419526.6:c.47C>T	ENSP00000392492.2:p.Thr16Ile
ENST00000547400.5:c.47C>T	ENSP00000446724.1:p.Thr16Ile
ENST00000550683.5:c.47C>T	ENSP00000447884.1:p.Thr16Ile
ENST00000551576.5:c.5C>T	ENSP00000455848.1:p.Thr2Ile
NM_000020.2:c.5C>T , LRG_543t1:c.5C>T	NP_000011.2:p.Thr2Ile
NM_001077401.1:c.5C>T	NP_001070869.1:p.Thr2Ile
XM_005269235.2:c.5C>T	XP_005269292.1:p.Thr2Ile
XM_011539008.1:c.47C>T	XP_011537310.1:p.Thr16Ile
NM_000020.3:c.5C>T MANE Select	NP_000011.2:p.Thr2Ile
NM_001077401.2:c.5C>T	NP_001070869.1:p.Thr2Ile