Canonical Allele Identifier: CA2036242392
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921252G= , CM000674.2:g.51921252G= GRCh38
NC_000012.11:g.52315036G= , CM000674.1:g.52315036G= GRCh37
NC_000012.10:g.50601303G= NCBI36
NG_009549.1:g.18835G= , LRG_543:g.18835G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*359G= ENSP00000455848.2:n.*359G=
ENST00000388922.9:c.*359G= MANE Select ENSP00000373574.4:n.*359G=
ENST00000550683.5:c.*359G= ENSP00000447884.1:n.*359G=
NM_000020.2:c.*359G= , LRG_543t1:c.*359G= NP_000011.2:n.*359G=
NM_001077401.1:c.*359G= NP_001070869.1:n.*359G=
XM_005269235.2:c.*359G= XP_005269292.1:n.*359G=
XM_011539008.1:c.*359G= XP_011537310.1:n.*359G=
XM_024449279.1:c.*359G= XP_024305047.1:n.*359G=
NM_000020.3:c.*359G= MANE Select NP_000011.2:n.*359G=
NM_001077401.2:c.*359G= NP_001070869.1:n.*359G=