Canonical Allele Identifier: CA2036269484
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915365T= , CM000674.2:g.51915365T= GRCh38
NC_000012.11:g.52309149T= , CM000674.1:g.52309149T= GRCh37
NC_000012.10:g.50595416T= NCBI36
NG_009549.1:g.12948T= , LRG_543:g.12948T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.643T= ENSP00000446724.2:p.Ser215=
ENST00000551576.6:c.913T= ENSP00000455848.2:p.Ser305=
ENST00000552678.2:c.913T= ENSP00000457394.2:p.Ser305=
ENST00000388922.9:c.913T= MANE Select ENSP00000373574.4:p.Ser305=
ENST00000388922.8:c.913T= ENSP00000373574.4:p.Ser305=
ENST00000419526.6:c.391T= ENSP00000392492.2:p.Ser131=
ENST00000550683.5:c.955T= ENSP00000447884.1:p.Ser319=
NM_000020.2:c.913T= , LRG_543t1:c.913T= NP_000011.2:p.Ser305=
NM_001077401.1:c.913T= NP_001070869.1:p.Ser305=
XM_005269235.2:c.913T= XP_005269292.1:p.Ser305=
XM_011539008.1:c.643T= XP_011537310.1:p.Ser215=
XM_024449279.1:c.124T= XP_024305047.1:p.Ser42=
NM_000020.3:c.913T= MANE Select NP_000011.2:p.Ser305=
NM_001077401.2:c.913T= NP_001070869.1:p.Ser305=