Canonical Allele Identifier: CA479817038
Gene: ACVRL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52314632A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920848A>G , CM000674.2:g.51920848A>G GRCh38
NC_000012.11:g.52314632A>G , CM000674.1:g.52314632A>G GRCh37
NC_000012.10:g.50600899A>G NCBI36
NG_009549.1:g.18431A>G , LRG_543:g.18431A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1197A>G ENSP00000446724.2:p.Leu399=
ENST00000551576.6:c.1467A>G ENSP00000455848.2:p.Leu489=
ENST00000388922.9:c.1467A>G MANE Select ENSP00000373574.4:p.Leu489=
ENST00000388922.8:c.1467A>G ENSP00000373574.4:p.Leu489=
ENST00000419526.6:c.945A>G ENSP00000392492.2:p.Leu315=
ENST00000550683.5:c.1509A>G ENSP00000447884.1:p.Leu503=
NM_000020.2:c.1467A>G , LRG_543t1:c.1467A>G NP_000011.2:p.Leu489=
NM_001077401.1:c.1467A>G NP_001070869.1:p.Leu489=
XM_005269235.2:c.1467A>G XP_005269292.1:p.Leu489=
XM_011539008.1:c.1197A>G XP_011537310.1:p.Leu399=
XM_024449279.1:c.678A>G XP_024305047.1:p.Leu226=
NM_000020.3:c.1467A>G MANE Select NP_000011.2:p.Leu489=
NM_001077401.2:c.1467A>G NP_001070869.1:p.Leu489=