Canonical Allele Identifier: CA343993316

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197008537G>T (hg19) ; chr1:g.197039407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039407G>T , CM000663.2:g.197039407G>T	GRCh38
NC_000001.10:g.197008537G>T , CM000663.1:g.197008537G>T	GRCh37
NC_000001.9:g.195275160G>T	NCBI36
NG_012065.1:g.32861C>A , LRG_550:g.32861C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1957C>A MANE Select	ENSP00000356382.2:p.Leu653Met
ENST00000649282.1:c.712C>A	ENSP00000497116.1:p.Leu238Met
ENST00000367412.1:c.1957C>A	ENSP00000356382.1:p.Leu653Met
NM_001994.2:c.1957C>A , LRG_550t1:c.1957C>A	NP_001985.2:p.Leu653Met
XM_011509283.2:c.*892C>A	XP_011507585.1:n.*892C>A
XM_011509284.2:c.*892C>A	XP_011507586.1:n.*892C>A
XM_011509286.2:c.*892C>A	XP_011507588.1:n.*892C>A
NM_001994.3:c.1957C>A MANE Select	NP_001985.2:p.Leu653Met