Canonical Allele Identifier: CA384905961
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920844C>A , CM000674.2:g.51920844C>A GRCh38
NC_000012.11:g.52314628C>A , CM000674.1:g.52314628C>A GRCh37
NC_000012.10:g.50600895C>A NCBI36
NG_009549.1:g.18427C>A , LRG_543:g.18427C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1463C>A MANE Select ENSP00000373574.4:p.Thr488Lys
ENST00000388922.8:c.1463C>A ENSP00000373574.4:p.Thr488Lys
ENST00000419526.6:c.941C>A ENSP00000392492.2:p.Thr314Lys
ENST00000550683.5:c.1505C>A ENSP00000447884.1:p.Thr502Lys
NM_000020.2:c.1463C>A , LRG_543t1:c.1463C>A NP_000011.2:p.Thr488Lys
NM_001077401.1:c.1463C>A NP_001070869.1:p.Thr488Lys
XM_005269235.2:c.1463C>A XP_005269292.1:p.Thr488Lys
XM_011539008.1:c.1193C>A XP_011537310.1:p.Thr398Lys
XM_024449279.1:c.674C>A XP_024305047.1:p.Thr225Lys
NM_000020.3:c.1463C>A MANE Select NP_000011.2:p.Thr488Lys
NM_001077401.2:c.1463C>A NP_001070869.1:p.Thr488Lys