Canonical Allele Identifier: CA384906019
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920850A>T , CM000674.2:g.51920850A>T GRCh38
NC_000012.11:g.52314634A>T , CM000674.1:g.52314634A>T GRCh37
NC_000012.10:g.50600901A>T NCBI36
NG_009549.1:g.18433A>T , LRG_543:g.18433A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1199A>T ENSP00000446724.2:p.Gln400Leu
ENST00000551576.6:c.1469A>T ENSP00000455848.2:p.Gln490Leu
ENST00000388922.9:c.1469A>T MANE Select ENSP00000373574.4:p.Gln490Leu
ENST00000388922.8:c.1469A>T ENSP00000373574.4:p.Gln490Leu
ENST00000419526.6:c.947A>T ENSP00000392492.2:p.Gln316Leu
ENST00000550683.5:c.1511A>T ENSP00000447884.1:p.Gln504Leu
NM_000020.2:c.1469A>T , LRG_543t1:c.1469A>T NP_000011.2:p.Gln490Leu
NM_001077401.1:c.1469A>T NP_001070869.1:p.Gln490Leu
XM_005269235.2:c.1469A>T XP_005269292.1:p.Gln490Leu
XM_011539008.1:c.1199A>T XP_011537310.1:p.Gln400Leu
XM_024449279.1:c.680A>T XP_024305047.1:p.Gln227Leu
NM_000020.3:c.1469A>T MANE Select NP_000011.2:p.Gln490Leu
NM_001077401.2:c.1469A>T NP_001070869.1:p.Gln490Leu