Canonical Allele Identifier: CA384900082

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52308287C>G (hg19) ; chr12:g.51914503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914503C>G , CM000674.2:g.51914503C>G	GRCh38
NC_000012.11:g.52308287C>G , CM000674.1:g.52308287C>G	GRCh37
NC_000012.10:g.50594554C>G	NCBI36
NG_009549.1:g.12086C>G , LRG_543:g.12086C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.420C>G	ENSP00000446724.2:p.Ile140Met
ENST00000551576.6:c.690C>G	ENSP00000455848.2:p.Ile230Met
ENST00000552678.2:c.690C>G	ENSP00000457394.2:p.Ile230Met
ENST00000388922.9:c.690C>G MANE Select	ENSP00000373574.4:p.Ile230Met
ENST00000388922.8:c.690C>G	ENSP00000373574.4:p.Ile230Met
ENST00000419526.6:c.168C>G	ENSP00000392492.2:p.Ile56Met
ENST00000547400.5:c.420C>G	ENSP00000446724.1:p.Ile140Met
ENST00000550683.5:c.732C>G	ENSP00000447884.1:p.Ile244Met
NM_000020.2:c.690C>G , LRG_543t1:c.690C>G	NP_000011.2:p.Ile230Met
NM_001077401.1:c.690C>G	NP_001070869.1:p.Ile230Met
XM_005269235.2:c.690C>G	XP_005269292.1:p.Ile230Met
XM_011539008.1:c.420C>G	XP_011537310.1:p.Ile140Met
XM_024449279.1:c.-100C>G	XP_024305047.1:n.-100C>G
NM_000020.3:c.690C>G MANE Select	NP_000011.2:p.Ile230Met
NM_001077401.2:c.690C>G	NP_001070869.1:p.Ile230Met