Canonical Allele Identifier: CA2618864751
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51921291-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51921291T>C , CM000674.2:g.51921291T>C GRCh38
NC_000012.11:g.52315075T>C , CM000674.1:g.52315075T>C GRCh37
NC_000012.10:g.50601342T>C NCBI36
NG_009549.1:g.18874T>C , LRG_543:g.18874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*398T>C ENSP00000455848.2:n.*398T>C
ENST00000388922.9:c.*398T>C MANE Select ENSP00000373574.4:n.*398T>C
ENST00000550683.5:c.*398T>C ENSP00000447884.1:n.*398T>C
NM_000020.2:c.*398T>C , LRG_543t1:c.*398T>C NP_000011.2:n.*398T>C
NM_001077401.1:c.*398T>C NP_001070869.1:n.*398T>C
XM_005269235.2:c.*398T>C XP_005269292.1:n.*398T>C
XM_011539008.1:c.*398T>C XP_011537310.1:n.*398T>C
XM_024449279.1:c.*398T>C XP_024305047.1:n.*398T>C
NM_000020.3:c.*398T>C MANE Select NP_000011.2:n.*398T>C
NM_001077401.2:c.*398T>C NP_001070869.1:n.*398T>C
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