Canonical Allele Identifier: CA16606658
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389897
dbSNP Id: rs1057523573

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920847T>C , CM000674.2:g.51920847T>C GRCh38
NC_000012.11:g.52314631T>C , CM000674.1:g.52314631T>C GRCh37
NC_000012.10:g.50600898T>C NCBI36
NG_009549.1:g.18430T>C , LRG_543:g.18430T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.1196T>C ENSP00000446724.2:p.Leu399Pro
ENST00000551576.6:c.1466T>C ENSP00000455848.2:p.Leu489Pro
ENST00000388922.9:c.1466T>C MANE Select ENSP00000373574.4:p.Leu489Pro
ENST00000388922.8:c.1466T>C ENSP00000373574.4:p.Leu489Pro
ENST00000419526.6:c.944T>C ENSP00000392492.2:p.Leu315Pro
ENST00000550683.5:c.1508T>C ENSP00000447884.1:p.Leu503Pro
NM_000020.2:c.1466T>C , LRG_543t1:c.1466T>C NP_000011.2:p.Leu489Pro
NM_001077401.1:c.1466T>C NP_001070869.1:p.Leu489Pro
XM_005269235.2:c.1466T>C XP_005269292.1:p.Leu489Pro
XM_011539008.1:c.1196T>C XP_011537310.1:p.Leu399Pro
XM_024449279.1:c.677T>C XP_024305047.1:p.Leu226Pro
NM_000020.3:c.1466T>C MANE Select NP_000011.2:p.Leu489Pro
NM_001077401.2:c.1466T>C NP_001070869.1:p.Leu489Pro