Canonical Allele Identifier: CA2036242426
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921298G= , CM000674.2:g.51921298G= GRCh38
NC_000012.11:g.52315082G= , CM000674.1:g.52315082G= GRCh37
NC_000012.10:g.50601349G= NCBI36
NG_009549.1:g.18881G= , LRG_543:g.18881G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*405G= ENSP00000455848.2:n.*405G=
ENST00000388922.9:c.*405G= MANE Select ENSP00000373574.4:n.*405G=
ENST00000550683.5:c.*405G= ENSP00000447884.1:n.*405G=
NM_000020.2:c.*405G= , LRG_543t1:c.*405G= NP_000011.2:n.*405G=
NM_001077401.1:c.*405G= NP_001070869.1:n.*405G=
XM_005269235.2:c.*405G= XP_005269292.1:n.*405G=
XM_011539008.1:c.*405G= XP_011537310.1:n.*405G=
XM_024449279.1:c.*405G= XP_024305047.1:n.*405G=
NM_000020.3:c.*405G= MANE Select NP_000011.2:n.*405G=
NM_001077401.2:c.*405G= NP_001070869.1:n.*405G=