Canonical Allele Identifier: CA384905885
Gene: ACVRL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52314622A>T (hg19) chr12:g.51920838A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920838A>T , CM000674.2:g.51920838A>T GRCh38
NC_000012.11:g.52314622A>T , CM000674.1:g.52314622A>T GRCh37
NC_000012.10:g.50600889A>T NCBI36
NG_009549.1:g.18421A>T , LRG_543:g.18421A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1187A>T ENSP00000446724.2:p.Lys396Met
ENST00000551576.6:c.1457A>T ENSP00000455848.2:p.Lys486Met
ENST00000388922.9:c.1457A>T MANE Select ENSP00000373574.4:p.Lys486Met
ENST00000388922.8:c.1457A>T ENSP00000373574.4:p.Lys486Met
ENST00000419526.6:c.935A>T ENSP00000392492.2:p.Lys312Met
ENST00000550683.5:c.1499A>T ENSP00000447884.1:p.Lys500Met
NM_000020.2:c.1457A>T , LRG_543t1:c.1457A>T NP_000011.2:p.Lys486Met
NM_001077401.1:c.1457A>T NP_001070869.1:p.Lys486Met
XM_005269235.2:c.1457A>T XP_005269292.1:p.Lys486Met
XM_011539008.1:c.1187A>T XP_011537310.1:p.Lys396Met
XM_024449279.1:c.668A>T XP_024305047.1:p.Lys223Met
NM_000020.3:c.1457A>T MANE Select NP_000011.2:p.Lys486Met
NM_001077401.2:c.1457A>T NP_001070869.1:p.Lys486Met
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