Canonical Allele Identifier: CA384905890

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314623G>T (hg19) ; chr12:g.51920839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920839G>T , CM000674.2:g.51920839G>T	GRCh38
NC_000012.11:g.52314623G>T , CM000674.1:g.52314623G>T	GRCh37
NC_000012.10:g.50600890G>T	NCBI36
NG_009549.1:g.18422G>T , LRG_543:g.18422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1188G>T	ENSP00000446724.2:p.Lys396Asn
ENST00000551576.6:c.1458G>T	ENSP00000455848.2:p.Lys486Asn
ENST00000388922.9:c.1458G>T MANE Select	ENSP00000373574.4:p.Lys486Asn
ENST00000388922.8:c.1458G>T	ENSP00000373574.4:p.Lys486Asn
ENST00000419526.6:c.936G>T	ENSP00000392492.2:p.Lys312Asn
ENST00000550683.5:c.1500G>T	ENSP00000447884.1:p.Lys500Asn
NM_000020.2:c.1458G>T , LRG_543t1:c.1458G>T	NP_000011.2:p.Lys486Asn
NM_001077401.1:c.1458G>T	NP_001070869.1:p.Lys486Asn
XM_005269235.2:c.1458G>T	XP_005269292.1:p.Lys486Asn
XM_011539008.1:c.1188G>T	XP_011537310.1:p.Lys396Asn
XM_024449279.1:c.669G>T	XP_024305047.1:p.Lys223Asn
NM_000020.3:c.1458G>T MANE Select	NP_000011.2:p.Lys486Asn
NM_001077401.2:c.1458G>T	NP_001070869.1:p.Lys486Asn