Canonical Allele Identifier: CA384902081

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1074703
• ClinVar RCV Id: RCV001388096 ; RCV004550099
• dbSNP Id: rs2139075900
• MyVariant Identifiers: chr12:g.52309840C>T (hg19) ; chr12:g.51916056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916056C>T , CM000674.2:g.51916056C>T	GRCh38
NC_000012.11:g.52309840C>T , CM000674.1:g.52309840C>T	GRCh37
NC_000012.10:g.50596107C>T	NCBI36
NG_009549.1:g.13639C>T , LRG_543:g.13639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.799C>T	ENSP00000446724.2:p.Gln267Ter
ENST00000551576.6:c.1069C>T	ENSP00000455848.2:p.Gln357Ter
ENST00000552678.2:c.1069C>T	ENSP00000457394.2:p.Gln357Ter
ENST00000388922.9:c.1069C>T MANE Select	ENSP00000373574.4:p.Gln357Ter
ENST00000388922.8:c.1069C>T	ENSP00000373574.4:p.Gln357Ter
ENST00000419526.6:c.547C>T	ENSP00000392492.2:p.Gln183Ter
ENST00000547632.1:n.344C>T
ENST00000550683.5:c.1111C>T	ENSP00000447884.1:p.Gln371Ter
ENST00000552678.1:c.74C>T
NM_000020.2:c.1069C>T , LRG_543t1:c.1069C>T	NP_000011.2:p.Gln357Ter
NM_001077401.1:c.1069C>T	NP_001070869.1:p.Gln357Ter
XM_005269235.2:c.1069C>T	XP_005269292.1:p.Gln357Ter
XM_011539008.1:c.799C>T	XP_011537310.1:p.Gln267Ter
XM_024449279.1:c.280C>T	XP_024305047.1:p.Gln94Ter
NM_000020.3:c.1069C>T MANE Select	NP_000011.2:p.Gln357Ter
NM_001077401.2:c.1069C>T	NP_001070869.1:p.Gln357Ter