Canonical Allele Identifier: CA384905841
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920835T>G , CM000674.2:g.51920835T>G GRCh38
NC_000012.11:g.52314619T>G , CM000674.1:g.52314619T>G GRCh37
NC_000012.10:g.50600886T>G NCBI36
NG_009549.1:g.18418T>G , LRG_543:g.18418T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1454T>G MANE Select ENSP00000373574.4:p.Ile485Ser
ENST00000388922.8:c.1454T>G ENSP00000373574.4:p.Ile485Ser
ENST00000419526.6:c.932T>G ENSP00000392492.2:p.Ile311Ser
ENST00000550683.5:c.1496T>G ENSP00000447884.1:p.Ile499Ser
NM_000020.2:c.1454T>G , LRG_543t1:c.1454T>G NP_000011.2:p.Ile485Ser
NM_001077401.1:c.1454T>G NP_001070869.1:p.Ile485Ser
XM_005269235.2:c.1454T>G XP_005269292.1:p.Ile485Ser
XM_011539008.1:c.1184T>G XP_011537310.1:p.Ile395Ser
XM_024449279.1:c.665T>G XP_024305047.1:p.Ile222Ser
NM_000020.3:c.1454T>G MANE Select NP_000011.2:p.Ile485Ser
NM_001077401.2:c.1454T>G NP_001070869.1:p.Ile485Ser