Canonical Allele Identifier: CA384900073

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 839186
• ClinVar RCV Id: RCV001040884
• dbSNP Id: rs1940782891
• MyVariant Identifiers: chr12:g.52308283A>T (hg19) ; chr12:g.51914499A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914499A>T , CM000674.2:g.51914499A>T	GRCh38
NC_000012.11:g.52308283A>T , CM000674.1:g.52308283A>T	GRCh37
NC_000012.10:g.50594550A>T	NCBI36
NG_009549.1:g.12082A>T , LRG_543:g.12082A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.416A>T	ENSP00000446724.2:p.Lys139Met
ENST00000551576.6:c.686A>T	ENSP00000455848.2:p.Lys229Met
ENST00000552678.2:c.686A>T	ENSP00000457394.2:p.Lys229Met
ENST00000388922.9:c.686A>T MANE Select	ENSP00000373574.4:p.Lys229Met
ENST00000388922.8:c.686A>T	ENSP00000373574.4:p.Lys229Met
ENST00000419526.6:c.164A>T	ENSP00000392492.2:p.Lys55Met
ENST00000547400.5:c.416A>T	ENSP00000446724.1:p.Lys139Met
ENST00000550683.5:c.728A>T	ENSP00000447884.1:p.Lys243Met
NM_000020.2:c.686A>T , LRG_543t1:c.686A>T	NP_000011.2:p.Lys229Met
NM_001077401.1:c.686A>T	NP_001070869.1:p.Lys229Met
XM_005269235.2:c.686A>T	XP_005269292.1:p.Lys229Met
XM_011539008.1:c.416A>T	XP_011537310.1:p.Lys139Met
XM_024449279.1:c.-104A>T	XP_024305047.1:n.-104A>T
NM_000020.3:c.686A>T MANE Select	NP_000011.2:p.Lys229Met
NM_001077401.2:c.686A>T	NP_001070869.1:p.Lys229Met