Canonical Allele Identifier: CA384905599
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920807C>G , CM000674.2:g.51920807C>G GRCh38
NC_000012.11:g.52314591C>G , CM000674.1:g.52314591C>G GRCh37
NC_000012.10:g.50600858C>G NCBI36
NG_009549.1:g.18390C>G , LRG_543:g.18390C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.1156C>G ENSP00000446724.2:p.Pro386Ala
ENST00000551576.6:c.1426C>G ENSP00000455848.2:p.Pro476Ala
ENST00000388922.9:c.1426C>G MANE Select ENSP00000373574.4:p.Pro476Ala
ENST00000388922.8:c.1426C>G ENSP00000373574.4:p.Pro476Ala
ENST00000419526.6:c.904C>G ENSP00000392492.2:p.Pro302Ala
ENST00000550683.5:c.1468C>G ENSP00000447884.1:p.Pro490Ala
NM_000020.2:c.1426C>G , LRG_543t1:c.1426C>G NP_000011.2:p.Pro476Ala
NM_001077401.1:c.1426C>G NP_001070869.1:p.Pro476Ala
XM_005269235.2:c.1426C>G XP_005269292.1:p.Pro476Ala
XM_011539008.1:c.1156C>G XP_011537310.1:p.Pro386Ala
XM_024449279.1:c.637C>G XP_024305047.1:p.Pro213Ala
NM_000020.3:c.1426C>G MANE Select NP_000011.2:p.Pro476Ala
NM_001077401.2:c.1426C>G NP_001070869.1:p.Pro476Ala