This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ACVRL1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000446724.1:p.Leu117Gln
ENST00000547400.5:c.[350T>A;354G>A]

ENST00000547400.5:c.[350T>A;354G=]

ENST00000547400.5:c.[350T>A;355G=]

ENST00000547400.5:c.[350T>A;357A>C]

ENST00000547400.5:c.[350T>A;357A>G]

ENST00000547400.5:c.[350T>A;357A>T]

ENST00000547400.5:c.[350T>A;360A>G]

ENST00000547400.5:c.[350T>A;361G=]

ENST00000547400.5:c.[350T>A;362G=]

ENST00000547400.5:c.[350T>A;363C>A]

ENST00000547400.5:c.[350T>A;363C=]

ENST00000547400.5:c.[350T>A;363C>G]

ENST00000547400.5:c.[350T>A;363C>T]

ENST00000547400.5:c.[350T>A;364C>A;366C>A...

ENST00000547400.5:c.[350T>A;364C>A;366C>G...

ENST00000547400.5:c.[350T>A;364C=]

ENST00000547400.5:c.[350T>A;365G=]

ENST00000547400.5:c.[350T>A;366C>A]

ENST00000547400.5:c.[350T>A;366C>G]

ENST00000547400.5:c.[350T>A;366C>T]

ENST00000547400.5:c.[350T>A;369T>C]

ENST00000547400.5:c.[350T>A;369T=]

ENST00000547400.5:c.[350T>A;369_370delins...

ENST00000547400.5:c.[350T>A;372C>A]

ENST00000547400.5:c.[350T>A;372C=]

ENST00000547400.5:c.[350T>A;372C>G]

ENST00000547400.5:c.[350T>A;372C>T]

ENST00000547400.5:c.[350T>A;373G=]

ENST00000547400.5:c.[350T>A;375A>G]

ENST00000547400.5:c.[350T>A;377T=]

ENST00000547400.5:c.[350T>A;378G>A]

ENST00000547400.5:c.[350T>A;378G>C]

ENST00000547400.5:c.[350T>A;378G>T]

ENST00000547400.5:c.[350T>A;381G=]

ENST00000547400.5:c.[350T>A;382C>A]

ENST00000547400.5:c.[350T>A;382C=]

ENST00000547400.5:c.[350T>A;383G=]

ENST00000547400.5:c.[350T>A;384G>A]

ENST00000547400.5:c.[350T>A;384G>C]

ENST00000547400.5:c.[350T>A;384G>T]

ENST00000547400.5:c.[350T>A;385G=]

ENST00000547400.5:c.[350T>A;387C>A]

ENST00000547400.5:c.[350T>A;387C=]

ENST00000547400.5:c.[350T>A;387C>G]

ENST00000547400.5:c.[350T>A;387C>T]

ENST00000547400.5:c.[350T>A;388T>C]

ENST00000547400.5:c.[350T>A;390G>A]

ENST00000547400.5:c.[350T>A;390G=]

ENST00000547400.5:c.[350T>A;394C=]

ENST00000547400.5:c.[350T>A;396C=]

ENST00000547400.5:c.[350T>A;396C>T]

ENST00000547400.5:c.[350T>A;397G=]

ENST00000547400.5:c.[350T>A;399T>A]

ENST00000547400.5:c.[350T>A;399T>C]

ENST00000547400.5:c.[350T>A;399T>G]

ENST00000547400.5:c.[350T>A;399T=]

ENST00000547400.5:c.[350T>A;399_401delins...

ENST00000547400.5:c.[350T>A;402G>A]

ENST00000547400.5:c.[350T>A;402G=]

ENST00000547400.5:c.[350T>A;404G=]

ENST00000547400.5:c.[350T>A;405T>C]

ENST00000547400.5:c.[350T>A;405T=]

ENST00000547400.5:c.[350T>A;407T=]

ENST00000547400.5:c.[350T>A;408G>A]

ENST00000547400.5:c.[350T>A;408G>C]

ENST00000547400.5:c.[350T>A;408G>T]

ENST00000547400.5:c.[350T>A;411C>A]

ENST00000547400.5:c.[350T>A;411C=]

ENST00000547400.5:c.[350T>A;411C>G]

ENST00000547400.5:c.[350T>A;411C>T]

ENST00000547400.5:c.[350T>A;412G=]

ENST00000547400.5:c.[350T>A;414C>A]

ENST00000547400.5:c.[350T>A;414C>G]

ENST00000547400.5:c.[350T>A;414C>T]

ENST00000547400.5:c.[350T>A;415A=]

ENST00000547400.5:c.[350T>A;416A=]

ENST00000547400.5:c.[350T>A;417G>A]

ENST00000547400.5:c.[350T>A;417G=]

ENST00000547400.5:c.[350T>A;420C>A]

ENST00000547400.5:c.[350T>A;420C>T]

ENST00000547400.5:c.[350T>A;422_425delins...

ENST00000547400.5:c.[350T>A;423C>T]

ENST00000547400.5:c.[350T>A;425C=]

ENST00000547400.5:c.[350T>A;426C>A]

ENST00000547400.5:c.[350T>A;426C=]

ENST00000547400.5:c.[350T>A;426C>G]

ENST00000547400.5:c.[350T>A;426C>T]

ENST00000547400.5:c.[350T>A;428C=]

ENST00000547400.5:c.[350T>A;429G>A]

ENST00000547400.5:c.[350T>A;429G>C]

ENST00000547400.5:c.[350T>A;429G=]

ENST00000547400.5:c.[350T>A;429G>T]

ENST00000547400.5:c.[350T>A;430A>C]

ENST00000547400.5:c.[350T>A;432G>A]