Canonical Allele Identifier: CA384897919
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913252T>A , CM000674.2:g.51913252T>A GRCh38
NC_000012.11:g.52307036T>A , CM000674.1:g.52307036T>A GRCh37
NC_000012.10:g.50593303T>A NCBI36
NG_009549.1:g.10835T>A , LRG_543:g.10835T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.215T>A MANE Select ENSP00000373574.4:p.Leu72Ter
ENST00000388922.8:c.215T>A ENSP00000373574.4:p.Leu72Ter
ENST00000419526.6:c.103+717T>A ENSP00000392492.2:p.=
ENST00000547400.5:c.257T>A ENSP00000446724.1:p.Leu86Ter
ENST00000550683.5:c.257T>A ENSP00000447884.1:p.Leu86Ter
ENST00000551576.5:c.215T>A ENSP00000455848.1:p.Leu72Ter
NM_000020.2:c.215T>A , LRG_543t1:c.215T>A NP_000011.2:p.Leu72Ter
NM_001077401.1:c.215T>A NP_001070869.1:p.Leu72Ter
XM_005269235.2:c.215T>A XP_005269292.1:p.Leu72Ter
XM_011539008.1:c.257T>A XP_011537310.1:p.Leu86Ter
NM_000020.3:c.215T>A MANE Select NP_000011.2:p.Leu72Ter
NM_001077401.2:c.215T>A NP_001070869.1:p.Leu72Ter