Canonical Allele Identifier: CA479807911

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2587089
• ClinVar RCV Id: RCV003339154
• dbSNP Id: rs1312780181
• gnomAD v2: 12-52308293-C-T
• gnomAD v4: 12-51914509-C-T
• MyVariant Identifiers: chr12:g.52308293C>T (hg19) ; chr12:g.51914509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914509C>T , CM000674.2:g.51914509C>T	GRCh38
NC_000012.11:g.52308293C>T , CM000674.1:g.52308293C>T	GRCh37
NC_000012.10:g.50594560C>T	NCBI36
NG_009549.1:g.12092C>T , LRG_543:g.12092C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.426C>T	ENSP00000446724.2:p.Ser142=
ENST00000551576.6:c.696C>T	ENSP00000455848.2:p.Ser232=
ENST00000552678.2:c.696C>T	ENSP00000457394.2:p.Ser232=
ENST00000388922.9:c.696C>T MANE Select	ENSP00000373574.4:p.Ser232=
ENST00000388922.8:c.696C>T	ENSP00000373574.4:p.Ser232=
ENST00000419526.6:c.174C>T	ENSP00000392492.2:p.Ser58=
ENST00000547400.5:c.426C>T	ENSP00000446724.1:p.Ser142=
ENST00000550683.5:c.738C>T	ENSP00000447884.1:p.Ser246=
NM_000020.2:c.696C>T , LRG_543t1:c.696C>T	NP_000011.2:p.Ser232=
NM_001077401.1:c.696C>T	NP_001070869.1:p.Ser232=
XM_005269235.2:c.696C>T	XP_005269292.1:p.Ser232=
XM_011539008.1:c.426C>T	XP_011537310.1:p.Ser142=
XM_024449279.1:c.-94C>T	XP_024305047.1:n.-94C>T
NM_000020.3:c.696C>T MANE Select	NP_000011.2:p.Ser232=
NM_001077401.2:c.696C>T	NP_001070869.1:p.Ser232=