Canonical Allele Identifier: CA6573135

Gene: ACVRL1

Linked Data

• dbSNP Id: rs747844851
• ExAC: 12:52312927 C / T
• gnomAD v3: 12-51919143-C-T
• gnomAD v4: 12-51919143-C-T
• MyVariant Identifiers: chr12:g.52312927C>T (hg19) ; chr12:g.51919143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919143C>T , CM000674.2:g.51919143C>T	GRCh38
NC_000012.11:g.52312927C>T , CM000674.1:g.52312927C>T	GRCh37
NC_000012.10:g.50599194C>T	NCBI36
NG_009549.1:g.16726C>T , LRG_543:g.16726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1107+28C>T	ENSP00000446724.2:n.1107+28C>T
ENST00000551576.6:c.1377+28C>T	ENSP00000455848.2:n.1377+28C>T
ENST00000552678.2:c.1405C>T	ENSP00000457394.2:p.Arg469Cys
ENST00000388922.9:c.1377+28C>T MANE Select	ENSP00000373574.4:n.1377+28C>T
ENST00000388922.8:c.1377+28C>T	ENSP00000373574.4:n.1377+28C>T
ENST00000419526.6:c.855+28C>T	ENSP00000392492.2:n.855+28C>T
ENST00000547632.1:n.680C>T
ENST00000550683.5:c.1419+28C>T	ENSP00000447884.1:n.1419+28C>T
ENST00000552678.1:c.410C>T
NM_000020.2:c.1377+28C>T , LRG_543t1:c.1377+28C>T	NP_000011.2:n.1377+28C>T
NM_001077401.1:c.1377+28C>T	NP_001070869.1:n.1377+28C>T
XM_005269235.2:c.1377+28C>T	XP_005269292.1:n.1377+28C>T
XM_011539008.1:c.1107+28C>T	XP_011537310.1:n.1107+28C>T
XM_024449279.1:c.588+28C>T	XP_024305047.1:n.588+28C>T
NM_000020.3:c.1377+28C>T MANE Select	NP_000011.2:n.1377+28C>T
NM_001077401.2:c.1377+28C>T	NP_001070869.1:n.1377+28C>T