Canonical Allele Identifier: CA384905831

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314618A>T (hg19) ; chr12:g.51920834A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920834A>T , CM000674.2:g.51920834A>T	GRCh38
NC_000012.11:g.52314618A>T , CM000674.1:g.52314618A>T	GRCh37
NC_000012.10:g.50600885A>T	NCBI36
NG_009549.1:g.18417A>T , LRG_543:g.18417A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388922.9:c.1453A>T MANE Select	ENSP00000373574.4:p.Ile485Phe
ENST00000388922.8:c.1453A>T	ENSP00000373574.4:p.Ile485Phe
ENST00000419526.6:c.931A>T	ENSP00000392492.2:p.Ile311Phe
ENST00000550683.5:c.1495A>T	ENSP00000447884.1:p.Ile499Phe
NM_000020.2:c.1453A>T , LRG_543t1:c.1453A>T	NP_000011.2:p.Ile485Phe
NM_001077401.1:c.1453A>T	NP_001070869.1:p.Ile485Phe
XM_005269235.2:c.1453A>T	XP_005269292.1:p.Ile485Phe
XM_011539008.1:c.1183A>T	XP_011537310.1:p.Ile395Phe
XM_024449279.1:c.664A>T	XP_024305047.1:p.Ile222Phe
NM_000020.3:c.1453A>T MANE Select	NP_000011.2:p.Ile485Phe
NM_001077401.2:c.1453A>T	NP_001070869.1:p.Ile485Phe