Canonical Allele Identifier: CA384906339

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920886-T-G
• MyVariant Identifiers: chr12:g.52314670T>G (hg19) ; chr12:g.51920886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920886T>G , CM000674.2:g.51920886T>G	GRCh38
NC_000012.11:g.52314670T>G , CM000674.1:g.52314670T>G	GRCh37
NC_000012.10:g.50600937T>G	NCBI36
NG_009549.1:g.18469T>G , LRG_543:g.18469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1235T>G	ENSP00000446724.2:p.Ile412Ser
ENST00000551576.6:c.1505T>G	ENSP00000455848.2:p.Ile502Ser
ENST00000388922.9:c.1505T>G MANE Select	ENSP00000373574.4:p.Ile502Ser
ENST00000388922.8:c.1505T>G	ENSP00000373574.4:p.Ile502Ser
ENST00000419526.6:c.983T>G	ENSP00000392492.2:p.Ile328Ser
ENST00000550683.5:c.1547T>G	ENSP00000447884.1:p.Ile516Ser
NM_000020.2:c.1505T>G , LRG_543t1:c.1505T>G	NP_000011.2:p.Ile502Ser
NM_001077401.1:c.1505T>G	NP_001070869.1:p.Ile502Ser
XM_005269235.2:c.1505T>G	XP_005269292.1:p.Ile502Ser
XM_011539008.1:c.1235T>G	XP_011537310.1:p.Ile412Ser
XM_024449279.1:c.716T>G	XP_024305047.1:p.Ile239Ser
NM_000020.3:c.1505T>G MANE Select	NP_000011.2:p.Ile502Ser
NM_001077401.2:c.1505T>G	NP_001070869.1:p.Ile502Ser