Canonical Allele Identifier: CA2036241662
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1111C= ENSP00000446724.2:p.Leu371=
ENST00000551576.6:c.1381C= ENSP00000455848.2:p.Leu461=
ENST00000388922.9:c.1381C= MANE Select ENSP00000373574.4:p.Leu461=
ENST00000388922.8:c.1381C= ENSP00000373574.4:p.Leu461=
ENST00000419526.6:c.859C= ENSP00000392492.2:p.Leu287=
ENST00000550683.5:c.1423C= ENSP00000447884.1:p.Leu475=
NM_000020.2:c.1381C= , LRG_543t1:c.1381C= NP_000011.2:p.Leu461=
NM_001077401.1:c.1381C= NP_001070869.1:p.Leu461=
XM_005269235.2:c.1381C= XP_005269292.1:p.Leu461=
XM_011539008.1:c.1111C= XP_011537310.1:p.Leu371=
XM_024449279.1:c.592C= XP_024305047.1:p.Leu198=
NM_000020.3:c.1381C= MANE Select NP_000011.2:p.Leu461=
NM_001077401.2:c.1381C= NP_001070869.1:p.Leu461=