Canonical Allele Identifier: CA384901081

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309165T>A (hg19) ; chr12:g.51915381T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915381T>A , CM000674.2:g.51915381T>A	GRCh38
NC_000012.11:g.52309165T>A , CM000674.1:g.52309165T>A	GRCh37
NC_000012.10:g.50595432T>A	NCBI36
NG_009549.1:g.12964T>A , LRG_543:g.12964T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.659T>A	ENSP00000446724.2:p.Leu220Gln
ENST00000551576.6:c.929T>A	ENSP00000455848.2:p.Leu310Gln
ENST00000552678.2:c.929T>A	ENSP00000457394.2:p.Leu310Gln
ENST00000388922.9:c.929T>A MANE Select	ENSP00000373574.4:p.Leu310Gln
ENST00000388922.8:c.929T>A	ENSP00000373574.4:p.Leu310Gln
ENST00000419526.6:c.407T>A	ENSP00000392492.2:p.Leu136Gln
ENST00000550683.5:c.971T>A	ENSP00000447884.1:p.Leu324Gln
NM_000020.2:c.929T>A , LRG_543t1:c.929T>A	NP_000011.2:p.Leu310Gln
NM_001077401.1:c.929T>A	NP_001070869.1:p.Leu310Gln
XM_005269235.2:c.929T>A	XP_005269292.1:p.Leu310Gln
XM_011539008.1:c.659T>A	XP_011537310.1:p.Leu220Gln
XM_024449279.1:c.140T>A	XP_024305047.1:p.Leu47Gln
NM_000020.3:c.929T>A MANE Select	NP_000011.2:p.Leu310Gln
NM_001077401.2:c.929T>A	NP_001070869.1:p.Leu310Gln