Canonical Allele Identifier: CA384905835

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314619T>A (hg19) ; chr12:g.51920835T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920835T>A , CM000674.2:g.51920835T>A	GRCh38
NC_000012.11:g.52314619T>A , CM000674.1:g.52314619T>A	GRCh37
NC_000012.10:g.50600886T>A	NCBI36
NG_009549.1:g.18418T>A , LRG_543:g.18418T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388922.9:c.1454T>A MANE Select	ENSP00000373574.4:p.Ile485Asn
ENST00000388922.8:c.1454T>A	ENSP00000373574.4:p.Ile485Asn
ENST00000419526.6:c.932T>A	ENSP00000392492.2:p.Ile311Asn
ENST00000550683.5:c.1496T>A	ENSP00000447884.1:p.Ile499Asn
NM_000020.2:c.1454T>A , LRG_543t1:c.1454T>A	NP_000011.2:p.Ile485Asn
NM_001077401.1:c.1454T>A	NP_001070869.1:p.Ile485Asn
XM_005269235.2:c.1454T>A	XP_005269292.1:p.Ile485Asn
XM_011539008.1:c.1184T>A	XP_011537310.1:p.Ile395Asn
XM_024449279.1:c.665T>A	XP_024305047.1:p.Ile222Asn
NM_000020.3:c.1454T>A MANE Select	NP_000011.2:p.Ile485Asn
NM_001077401.2:c.1454T>A	NP_001070869.1:p.Ile485Asn