Canonical Allele Identifier: CA344000880

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024850C>T (hg19) ; chr1:g.197055720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055720C>T , CM000663.2:g.197055720C>T	GRCh38
NC_000001.10:g.197024850C>T , CM000663.1:g.197024850C>T	GRCh37
NC_000001.9:g.195291473C>T	NCBI36
NG_012065.1:g.16548G>A , LRG_550:g.16548G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1349G>A MANE Select	ENSP00000356382.2:p.Cys450Tyr
ENST00000649282.1:c.104G>A	ENSP00000497116.1:p.Cys35Tyr
ENST00000367412.1:c.1349G>A	ENSP00000356382.1:p.Cys450Tyr
NM_001994.2:c.1349G>A , LRG_550t1:c.1349G>A	NP_001985.2:p.Cys450Tyr
XM_011509283.1:c.1349G>A	XP_011507585.1:p.Cys450Tyr
XM_011509284.1:c.1346G>A	XP_011507586.1:p.Cys449Tyr
XM_011509285.1:c.1253G>A	XP_011507587.1:p.Cys418Tyr
XM_011509286.1:c.1205G>A	XP_011507588.1:p.Cys402Tyr
XM_011509283.2:c.1349G>A	XP_011507585.1:p.Cys450Tyr
XM_011509284.2:c.1346G>A	XP_011507586.1:p.Cys449Tyr
XM_011509286.2:c.1205G>A	XP_011507588.1:p.Cys402Tyr
NM_001994.3:c.1349G>A MANE Select	NP_001985.2:p.Cys450Tyr