Canonical Allele Identifier: CA384904714

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919093C>T , CM000674.2:g.51919093C>T	GRCh38
NC_000012.11:g.52312877C>T , CM000674.1:g.52312877C>T	GRCh37
NC_000012.10:g.50599144C>T	NCBI36
NG_009549.1:g.16676C>T , LRG_543:g.16676C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1355C>T MANE Select	NP_000011.2:p.Pro452Leu
ENST00000388922.9:c.1355C>T MANE Select	ENSP00000373574.4:p.Pro452Leu
NM_000020.2:c.1355C>T , LRG_543t1:c.1355C>T	NP_000011.2:p.Pro452Leu
NM_001077401.1:c.1355C>T	NP_001070869.1:p.Pro452Leu
NM_001077401.2:c.1355C>T	NP_001070869.1:p.Pro452Leu
ENST00000388922.8:c.1355C>T	ENSP00000373574.4:p.Pro452Leu
ENST00000419526.6:c.833C>T	ENSP00000392492.2:p.Pro278Leu
ENST00000547400.6:c.1085C>T	ENSP00000446724.2:p.Pro362Leu
ENST00000547632.1:n.630C>T
ENST00000550683.5:c.1397C>T	ENSP00000447884.1:p.Pro466Leu
ENST00000551576.6:c.1355C>T	ENSP00000455848.2:p.Pro452Leu
ENST00000552678.1:c.360C>T
ENST00000552678.2:c.1355C>T	ENSP00000457394.2:p.Pro452Leu
XM_005269235.2:c.1355C>T	XP_005269292.1:p.Pro452Leu
XM_011539008.1:c.1085C>T	XP_011537310.1:p.Pro362Leu
XM_024449279.1:c.566C>T	XP_024305047.1:p.Pro189Leu