Canonical Allele Identifier: CA349979611

Gene: TFPI CALCRL-AS1

Linked Data

• gnomAD v4: 2-187467878-G-A
• COSMIC: COSM1669589
• MyVariant Identifiers: chr2:g.188332605G>A (hg19) ; chr2:g.187467878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.187467878G>A , CM000664.2:g.187467878G>A	GRCh38
NC_000002.11:g.188332605G>A , CM000664.1:g.188332605G>A	GRCh37
NC_000002.10:g.188040850G>A	NCBI36
NG_029714.2:g.102883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233156.9:c.683C>T (TFPI) MANE Select	ENSP00000233156.3:p.Ala228Val
ENST00000233156.7:c.683C>T (TFPI)	ENSP00000233156.3:p.Ala228Val
ENST00000392365.5:c.683C>T (TFPI)	ENSP00000376172.1:p.Ala228Val
ENST00000426055.5:c.683C>T (TFPI)	ENSP00000397248.1:p.Ala228Val
ENST00000435414.5:c.644C>T (TFPI)	ENSP00000409177.1:p.Ala215Val
ENST00000481132.5:n.7524C>T (TFPI)
NM_006287.4:c.683C>T (TFPI)	NP_006278.1:p.Ala228Val
XM_005246818.1:c.683C>T (TFPI)	XP_005246875.1:p.Ala228Val
XM_005246819.1:c.683C>T (TFPI)	XP_005246876.1:p.Ala228Val
XM_006712720.2:c.683C>T (TFPI)	XP_006712783.1:p.Ala228Val
XM_011511707.1:c.683C>T (TFPI)	XP_011510009.1:p.Ala228Val
XM_011511708.1:c.683C>T (TFPI)	XP_011510010.1:p.Ala228Val
XM_011511709.1:c.683C>T (TFPI)	XP_011510011.1:p.Ala228Val
XR_923674.1:n.515+5862G>A (CALCRL-AS1)
XR_923675.1:n.515+5862G>A (CALCRL-AS1)
XR_923676.1:n.515+5862G>A (CALCRL-AS1)
XR_923677.1:n.515+5862G>A (CALCRL-AS1)
XR_923681.1:n.515+5862G>A (CALCRL-AS1)
NM_001329239.1:c.683C>T (TFPI)	NP_001316168.1:p.Ala228Val
NM_001329240.1:c.683C>T (TFPI)	NP_001316169.1:p.Ala228Val
NM_001329241.1:c.683C>T (TFPI)	NP_001316170.1:p.Ala228Val
NM_006287.5:c.683C>T (TFPI)	NP_006278.1:p.Ala228Val
XM_006712720.4:c.683C>T (TFPI)	XP_006712783.1:p.Ala228Val
XM_011511709.3:c.683C>T (TFPI)	XP_011510011.1:p.Ala228Val
XM_024453058.1:c.683C>T (TFPI)	XP_024308826.1:p.Ala228Val
XR_001739821.1:n.1766+5862G>A (CALCRL-AS1)
XR_001739822.1:n.1758+5862G>A (CALCRL-AS1)
XR_001739823.1:n.3420-31628G>A (CALCRL-AS1)
NM_006287.6:c.683C>T (TFPI) MANE Select	NP_006278.1:p.Ala228Val
NM_001329239.2:c.683C>T (TFPI)	NP_001316168.1:p.Ala228Val
NM_001329240.2:c.683C>T (TFPI)	NP_001316169.1:p.Ala228Val
NM_001329241.2:c.683C>T (TFPI)	NP_001316170.1:p.Ala228Val