Canonical Allele Identifier: CA422666672

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197008538A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039408A>T , CM000663.2:g.197039408A>T	GRCh38
NC_000001.10:g.197008538A>T , CM000663.1:g.197008538A>T	GRCh37
NC_000001.9:g.195275161A>T	NCBI36
NG_012065.1:g.32860T>A , LRG_550:g.32860T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1956T>A MANE Select	ENSP00000356382.2:p.Thr652=
ENST00000649282.1:c.711T>A	ENSP00000497116.1:p.Thr237=
ENST00000367412.1:c.1956T>A	ENSP00000356382.1:p.Thr652=
NM_001994.2:c.1956T>A , LRG_550t1:c.1956T>A	NP_001985.2:p.Thr652=
XM_011509283.2:c.*891T>A	XP_011507585.1:n.*891T>A
XM_011509284.2:c.*891T>A	XP_011507586.1:n.*891T>A
XM_011509286.2:c.*891T>A	XP_011507588.1:n.*891T>A
NM_001994.3:c.1956T>A MANE Select	NP_001985.2:p.Thr652=