Canonical Allele Identifier: CA422667762

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024852A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055722A>T , CM000663.2:g.197055722A>T	GRCh38
NC_000001.10:g.197024852A>T , CM000663.1:g.197024852A>T	GRCh37
NC_000001.9:g.195291475A>T	NCBI36
NG_012065.1:g.16546T>A , LRG_550:g.16546T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1347T>A MANE Select	ENSP00000356382.2:p.Val449=
ENST00000649282.1:c.102T>A	ENSP00000497116.1:p.Val34=
ENST00000367412.1:c.1347T>A	ENSP00000356382.1:p.Val449=
NM_001994.2:c.1347T>A , LRG_550t1:c.1347T>A	NP_001985.2:p.Val449=
XM_011509283.1:c.1347T>A	XP_011507585.1:p.Val449=
XM_011509284.1:c.1344T>A	XP_011507586.1:p.Val448=
XM_011509285.1:c.1251T>A	XP_011507587.1:p.Val417=
XM_011509286.1:c.1203T>A	XP_011507588.1:p.Val401=
XM_011509283.2:c.1347T>A	XP_011507585.1:p.Val449=
XM_011509284.2:c.1344T>A	XP_011507586.1:p.Val448=
XM_011509286.2:c.1203T>A	XP_011507588.1:p.Val401=
NM_001994.3:c.1347T>A MANE Select	NP_001985.2:p.Val449=