Canonical Allele Identifier: CA344000893

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024853A>T (hg19) ; chr1:g.197055723A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055723A>T , CM000663.2:g.197055723A>T	GRCh38
NC_000001.10:g.197024853A>T , CM000663.1:g.197024853A>T	GRCh37
NC_000001.9:g.195291476A>T	NCBI36
NG_012065.1:g.16545T>A , LRG_550:g.16545T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1346T>A MANE Select	ENSP00000356382.2:p.Val449Asp
ENST00000649282.1:c.101T>A	ENSP00000497116.1:p.Val34Asp
ENST00000367412.1:c.1346T>A	ENSP00000356382.1:p.Val449Asp
NM_001994.2:c.1346T>A , LRG_550t1:c.1346T>A	NP_001985.2:p.Val449Asp
XM_011509283.1:c.1346T>A	XP_011507585.1:p.Val449Asp
XM_011509284.1:c.1343T>A	XP_011507586.1:p.Val448Asp
XM_011509285.1:c.1250T>A	XP_011507587.1:p.Val417Asp
XM_011509286.1:c.1202T>A	XP_011507588.1:p.Val401Asp
XM_011509283.2:c.1346T>A	XP_011507585.1:p.Val449Asp
XM_011509284.2:c.1343T>A	XP_011507586.1:p.Val448Asp
XM_011509286.2:c.1202T>A	XP_011507588.1:p.Val401Asp
NM_001994.3:c.1346T>A MANE Select	NP_001985.2:p.Val449Asp