Canonical Allele Identifier: CA6573167
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs762859184

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920762C>G , CM000674.2:g.51920762C>G GRCh38
NC_000012.11:g.52314546C>G , CM000674.1:g.52314546C>G GRCh37
NC_000012.10:g.50600813C>G NCBI36
NG_009549.1:g.18345C>G , LRG_543:g.18345C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1381C>G MANE Select ENSP00000373574.4:p.Leu461Val
ENST00000388922.8:c.1381C>G ENSP00000373574.4:p.Leu461Val
ENST00000419526.6:c.859C>G ENSP00000392492.2:p.Leu287Val
ENST00000550683.5:c.1423C>G ENSP00000447884.1:p.Leu475Val
NM_000020.2:c.1381C>G , LRG_543t1:c.1381C>G NP_000011.2:p.Leu461Val
NM_001077401.1:c.1381C>G NP_001070869.1:p.Leu461Val
XM_005269235.2:c.1381C>G XP_005269292.1:p.Leu461Val
XM_011539008.1:c.1111C>G XP_011537310.1:p.Leu371Val
XM_024449279.1:c.592C>G XP_024305047.1:p.Leu198Val
NM_000020.3:c.1381C>G MANE Select NP_000011.2:p.Leu461Val
NM_001077401.2:c.1381C>G NP_001070869.1:p.Leu461Val