Canonical Allele Identifier: CA245043
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197093
dbSNP Id: rs76038779

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913729C>T , CM000674.2:g.51913729C>T GRCh38
NC_000012.11:g.52307513C>T , CM000674.1:g.52307513C>T GRCh37
NC_000012.10:g.50593780C>T NCBI36
NG_009549.1:g.11312C>T , LRG_543:g.11312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.355+379C>T ENSP00000446724.2:n.355+379C>T
ENST00000551576.6:c.484C>T ENSP00000455848.2:p.Leu162Phe
ENST00000552678.2:c.484C>T ENSP00000457394.2:p.Leu162Phe
ENST00000388922.9:c.484C>T MANE Select ENSP00000373574.4:p.Leu162Phe
ENST00000388922.8:c.484C>T ENSP00000373574.4:p.Leu162Phe
ENST00000419526.6:c.104-710C>T ENSP00000392492.2:n.104-710C>T
ENST00000547400.5:c.355+379C>T ENSP00000446724.1:n.355+379C>T
ENST00000550683.5:c.526C>T ENSP00000447884.1:p.Leu176Phe
NM_000020.2:c.484C>T , LRG_543t1:c.484C>T NP_000011.2:p.Leu162Phe
NM_001077401.1:c.484C>T NP_001070869.1:p.Leu162Phe
XM_005269235.2:c.484C>T XP_005269292.1:p.Leu162Phe
XM_011539008.1:c.355+379C>T XP_011537310.1:n.355+379C>T
XM_024449279.1:c.-206C>T XP_024305047.1:n.-206C>T
NM_000020.3:c.484C>T MANE Select NP_000011.2:p.Leu162Phe
NM_001077401.2:c.484C>T NP_001070869.1:p.Leu162Phe