Canonical Allele Identifier: CA384905947
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920843A>T , CM000674.2:g.51920843A>T GRCh38
NC_000012.11:g.52314627A>T , CM000674.1:g.52314627A>T GRCh37
NC_000012.10:g.50600894A>T NCBI36
NG_009549.1:g.18426A>T , LRG_543:g.18426A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1462A>T MANE Select ENSP00000373574.4:p.Thr488Ser
ENST00000388922.8:c.1462A>T ENSP00000373574.4:p.Thr488Ser
ENST00000419526.6:c.940A>T ENSP00000392492.2:p.Thr314Ser
ENST00000550683.5:c.1504A>T ENSP00000447884.1:p.Thr502Ser
NM_000020.2:c.1462A>T , LRG_543t1:c.1462A>T NP_000011.2:p.Thr488Ser
NM_001077401.1:c.1462A>T NP_001070869.1:p.Thr488Ser
XM_005269235.2:c.1462A>T XP_005269292.1:p.Thr488Ser
XM_011539008.1:c.1192A>T XP_011537310.1:p.Thr398Ser
XM_024449279.1:c.673A>T XP_024305047.1:p.Thr225Ser
NM_000020.3:c.1462A>T MANE Select NP_000011.2:p.Thr488Ser
NM_001077401.2:c.1462A>T NP_001070869.1:p.Thr488Ser