Canonical Allele Identifier: CA422666669

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197008535C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039405C>G , CM000663.2:g.197039405C>G	GRCh38
NC_000001.10:g.197008535C>G , CM000663.1:g.197008535C>G	GRCh37
NC_000001.9:g.195275158C>G	NCBI36
NG_012065.1:g.32863G>C , LRG_550:g.32863G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1959G>C MANE Select	ENSP00000356382.2:p.Leu653=
ENST00000649282.1:c.714G>C	ENSP00000497116.1:p.Leu238=
ENST00000367412.1:c.1959G>C	ENSP00000356382.1:p.Leu653=
NM_001994.2:c.1959G>C , LRG_550t1:c.1959G>C	NP_001985.2:p.Leu653=
XM_011509283.2:c.*894G>C	XP_011507585.1:n.*894G>C
XM_011509284.2:c.*894G>C	XP_011507586.1:n.*894G>C
XM_011509286.2:c.*894G>C	XP_011507588.1:n.*894G>C
NM_001994.3:c.1959G>C MANE Select	NP_001985.2:p.Leu653=