Canonical Allele Identifier: CA384905820

Gene: ACVRL1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1453A>C MANE Select	NP_000011.2:p.Ile485Leu
ENST00000388922.9:c.1453A>C MANE Select	ENSP00000373574.4:p.Ile485Leu
NM_000020.2:c.1453A>C , LRG_543t1:c.1453A>C	NP_000011.2:p.Ile485Leu
NM_001077401.1:c.1453A>C	NP_001070869.1:p.Ile485Leu
NM_001077401.2:c.1453A>C	NP_001070869.1:p.Ile485Leu
ENST00000388922.8:c.1453A>C	ENSP00000373574.4:p.Ile485Leu
ENST00000419526.6:c.931A>C	ENSP00000392492.2:p.Ile311Leu
ENST00000547400.6:c.1183A>C	ENSP00000446724.2:p.Ile395Leu
ENST00000550683.5:c.1495A>C	ENSP00000447884.1:p.Ile499Leu
ENST00000551576.6:c.1453A>C	ENSP00000455848.2:p.Ile485Leu
XM_005269235.2:c.1453A>C	XP_005269292.1:p.Ile485Leu
XM_011539008.1:c.1183A>C	XP_011537310.1:p.Ile395Leu
XM_024449279.1:c.664A>C	XP_024305047.1:p.Ile222Leu