Canonical Allele Identifier: CA384905848
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920837A>C , CM000674.2:g.51920837A>C GRCh38
NC_000012.11:g.52314621A>C , CM000674.1:g.52314621A>C GRCh37
NC_000012.10:g.50600888A>C NCBI36
NG_009549.1:g.18420A>C , LRG_543:g.18420A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1456A>C MANE Select ENSP00000373574.4:p.Lys486Gln
ENST00000388922.8:c.1456A>C ENSP00000373574.4:p.Lys486Gln
ENST00000419526.6:c.934A>C ENSP00000392492.2:p.Lys312Gln
ENST00000550683.5:c.1498A>C ENSP00000447884.1:p.Lys500Gln
NM_000020.2:c.1456A>C , LRG_543t1:c.1456A>C NP_000011.2:p.Lys486Gln
NM_001077401.1:c.1456A>C NP_001070869.1:p.Lys486Gln
XM_005269235.2:c.1456A>C XP_005269292.1:p.Lys486Gln
XM_011539008.1:c.1186A>C XP_011537310.1:p.Lys396Gln
XM_024449279.1:c.667A>C XP_024305047.1:p.Lys223Gln
NM_000020.3:c.1456A>C MANE Select NP_000011.2:p.Lys486Gln
NM_001077401.2:c.1456A>C NP_001070869.1:p.Lys486Gln