Canonical Allele Identifier: CA236367979
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs993873584
gnomAD v4: 12-51921094-A-C
MyVariant Identifiers: chr12:g.52314878A>C (hg19) chr12:g.51921094A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921094A>C , CM000674.2:g.51921094A>C GRCh38
NC_000012.11:g.52314878A>C , CM000674.1:g.52314878A>C GRCh37
NC_000012.10:g.50601145A>C NCBI36
NG_009549.1:g.18677A>C , LRG_543:g.18677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*201A>C ENSP00000455848.2:n.*201A>C
ENST00000388922.9:c.*201A>C MANE Select ENSP00000373574.4:n.*201A>C
ENST00000419526.6:c.*201A>C ENSP00000392492.2:n.*201A>C
ENST00000550683.5:c.*201A>C ENSP00000447884.1:n.*201A>C
NM_000020.2:c.*201A>C , LRG_543t1:c.*201A>C NP_000011.2:n.*201A>C
NM_001077401.1:c.*201A>C NP_001070869.1:n.*201A>C
XM_005269235.2:c.*201A>C XP_005269292.1:n.*201A>C
XM_011539008.1:c.*201A>C XP_011537310.1:n.*201A>C
XM_024449279.1:c.*201A>C XP_024305047.1:n.*201A>C
NM_000020.3:c.*201A>C MANE Select NP_000011.2:n.*201A>C
NM_001077401.2:c.*201A>C NP_001070869.1:n.*201A>C
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