Canonical Allele Identifier: CA384898123

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 439387
• ClinVar RCV Id: RCV000506557
• dbSNP Id: rs1555152538
• MyVariant Identifiers: chr12:g.52307125G>C (hg19) ; chr12:g.51913341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913341G>C , CM000674.2:g.51913341G>C	GRCh38
NC_000012.11:g.52307125G>C , CM000674.1:g.52307125G>C	GRCh37
NC_000012.10:g.50593392G>C	NCBI36
NG_009549.1:g.10924G>C , LRG_543:g.10924G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.346G>C	ENSP00000446724.2:p.Val116Leu
ENST00000551576.6:c.304G>C	ENSP00000455848.2:p.Val102Leu
ENST00000552678.2:c.304G>C	ENSP00000457394.2:p.Val102Leu
ENST00000388922.9:c.304G>C MANE Select	ENSP00000373574.4:p.Val102Leu
ENST00000388922.8:c.304G>C	ENSP00000373574.4:p.Val102Leu
ENST00000419526.6:c.103+806G>C	ENSP00000392492.2:n.103+806G>C
ENST00000547400.5:c.346G>C	ENSP00000446724.1:p.Val116Leu
ENST00000550683.5:c.346G>C	ENSP00000447884.1:p.Val116Leu
NM_000020.2:c.304G>C , LRG_543t1:c.304G>C	NP_000011.2:p.Val102Leu
NM_001077401.1:c.304G>C	NP_001070869.1:p.Val102Leu
XM_005269235.2:c.304G>C	XP_005269292.1:p.Val102Leu
XM_011539008.1:c.346G>C	XP_011537310.1:p.Val116Leu
XM_024449279.1:c.-386G>C	XP_024305047.1:n.-386G>C
NM_000020.3:c.304G>C MANE Select	NP_000011.2:p.Val102Leu
NM_001077401.2:c.304G>C	NP_001070869.1:p.Val102Leu