Canonical Allele Identifier: CA384905890
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920839G>T , CM000674.2:g.51920839G>T GRCh38
NC_000012.11:g.52314623G>T , CM000674.1:g.52314623G>T GRCh37
NC_000012.10:g.50600890G>T NCBI36
NG_009549.1:g.18422G>T , LRG_543:g.18422G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1458G>T MANE Select ENSP00000373574.4:p.Lys486Asn
ENST00000388922.8:c.1458G>T ENSP00000373574.4:p.Lys486Asn
ENST00000419526.6:c.936G>T ENSP00000392492.2:p.Lys312Asn
ENST00000550683.5:c.1500G>T ENSP00000447884.1:p.Lys500Asn
NM_000020.2:c.1458G>T , LRG_543t1:c.1458G>T NP_000011.2:p.Lys486Asn
NM_001077401.1:c.1458G>T NP_001070869.1:p.Lys486Asn
XM_005269235.2:c.1458G>T XP_005269292.1:p.Lys486Asn
XM_011539008.1:c.1188G>T XP_011537310.1:p.Lys396Asn
XM_024449279.1:c.669G>T XP_024305047.1:p.Lys223Asn
NM_000020.3:c.1458G>T MANE Select NP_000011.2:p.Lys486Asn
NM_001077401.2:c.1458G>T NP_001070869.1:p.Lys486Asn