Canonical Allele Identifier: CA384905331

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2735879
• ClinVar RCV Id: RCV003508995
• MyVariant Identifiers: chr12:g.52314561C>T (hg19) ; chr12:g.51920777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920777C>T , CM000674.2:g.51920777C>T	GRCh38
NC_000012.11:g.52314561C>T , CM000674.1:g.52314561C>T	GRCh37
NC_000012.10:g.50600828C>T	NCBI36
NG_009549.1:g.18360C>T , LRG_543:g.18360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1126C>T	ENSP00000446724.2:p.Gln376Ter
ENST00000551576.6:c.1396C>T	ENSP00000455848.2:p.Gln466Ter
ENST00000388922.9:c.1396C>T MANE Select	ENSP00000373574.4:p.Gln466Ter
ENST00000388922.8:c.1396C>T	ENSP00000373574.4:p.Gln466Ter
ENST00000419526.6:c.874C>T	ENSP00000392492.2:p.Gln292Ter
ENST00000550683.5:c.1438C>T	ENSP00000447884.1:p.Gln480Ter
NM_000020.2:c.1396C>T , LRG_543t1:c.1396C>T	NP_000011.2:p.Gln466Ter
NM_001077401.1:c.1396C>T	NP_001070869.1:p.Gln466Ter
XM_005269235.2:c.1396C>T	XP_005269292.1:p.Gln466Ter
XM_011539008.1:c.1126C>T	XP_011537310.1:p.Gln376Ter
XM_024449279.1:c.607C>T	XP_024305047.1:p.Gln203Ter
NM_000020.3:c.1396C>T MANE Select	NP_000011.2:p.Gln466Ter
NM_001077401.2:c.1396C>T	NP_001070869.1:p.Gln466Ter