Canonical Allele Identifier: CA384905234
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920762C>A , CM000674.2:g.51920762C>A GRCh38
NC_000012.11:g.52314546C>A , CM000674.1:g.52314546C>A GRCh37
NC_000012.10:g.50600813C>A NCBI36
NG_009549.1:g.18345C>A , LRG_543:g.18345C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1111C>A ENSP00000446724.2:p.Leu371Ile
ENST00000551576.6:c.1381C>A ENSP00000455848.2:p.Leu461Ile
ENST00000388922.9:c.1381C>A MANE Select ENSP00000373574.4:p.Leu461Ile
ENST00000388922.8:c.1381C>A ENSP00000373574.4:p.Leu461Ile
ENST00000419526.6:c.859C>A ENSP00000392492.2:p.Leu287Ile
ENST00000550683.5:c.1423C>A ENSP00000447884.1:p.Leu475Ile
NM_000020.2:c.1381C>A , LRG_543t1:c.1381C>A NP_000011.2:p.Leu461Ile
NM_001077401.1:c.1381C>A NP_001070869.1:p.Leu461Ile
XM_005269235.2:c.1381C>A XP_005269292.1:p.Leu461Ile
XM_011539008.1:c.1111C>A XP_011537310.1:p.Leu371Ile
XM_024449279.1:c.592C>A XP_024305047.1:p.Leu198Ile
NM_000020.3:c.1381C>A MANE Select NP_000011.2:p.Leu461Ile
NM_001077401.2:c.1381C>A NP_001070869.1:p.Leu461Ile