Canonical Allele Identifier: CA384897892
Gene: ACVRL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52307024G>C (hg19) chr12:g.51913240G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913240G>C , CM000674.2:g.51913240G>C GRCh38
NC_000012.11:g.52307024G>C , CM000674.1:g.52307024G>C GRCh37
NC_000012.10:g.50593291G>C NCBI36
NG_009549.1:g.10823G>C , LRG_543:g.10823G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.245G>C ENSP00000446724.2:p.Gly82Ala
ENST00000551576.6:c.203G>C ENSP00000455848.2:p.Gly68Ala
ENST00000552678.2:c.203G>C ENSP00000457394.2:p.Gly68Ala
ENST00000388922.9:c.203G>C MANE Select ENSP00000373574.4:p.Gly68Ala
ENST00000388922.8:c.203G>C ENSP00000373574.4:p.Gly68Ala
ENST00000419526.6:c.103+705G>C ENSP00000392492.2:n.103+705G>C
ENST00000547400.5:c.245G>C ENSP00000446724.1:p.Gly82Ala
ENST00000550683.5:c.245G>C ENSP00000447884.1:p.Gly82Ala
ENST00000551576.5:c.203G>C ENSP00000455848.1:p.Gly68Ala
NM_000020.2:c.203G>C , LRG_543t1:c.203G>C NP_000011.2:p.Gly68Ala
NM_001077401.1:c.203G>C NP_001070869.1:p.Gly68Ala
XM_005269235.2:c.203G>C XP_005269292.1:p.Gly68Ala
XM_011539008.1:c.245G>C XP_011537310.1:p.Gly82Ala
NM_000020.3:c.203G>C MANE Select NP_000011.2:p.Gly68Ala
NM_001077401.2:c.203G>C NP_001070869.1:p.Gly68Ala
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