Canonical Allele Identifier: CA343772148

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2683977
• ClinVar RCV Id: RCV003484578
• MyVariant Identifiers: chr1:g.173873064A>G (hg19) ; chr1:g.173903926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903926A>G , CM000663.2:g.173903926A>G	GRCh38
NC_000001.10:g.173873064A>G , CM000663.1:g.173873064A>G	GRCh37
NC_000001.9:g.172139687A>G	NCBI36
NG_012462.1:g.18453T>C , LRG_577:g.18453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1358T>C MANE Select	ENSP00000356671.3:p.Ile453Thr
ENST00000367698.3:c.1358T>C	ENSP00000356671.3:p.Ile453Thr
ENST00000617423.4:c.743T>C	ENSP00000478688.1:p.Ile248Thr
NM_000488.3:c.1358T>C , LRG_577t1:c.1358T>C	NP_000479.1:p.Ile453Thr
XM_005245198.2:c.1214T>C	XP_005245255.1:p.Ile405Thr
NM_001365052.1:c.1214T>C	NP_001351981.1:p.Ile405Thr
NM_000488.4:c.1358T>C MANE Select	NP_000479.1:p.Ile453Thr
NM_001365052.2:c.1214T>C	NP_001351981.1:p.Ile405Thr
NM_001386302.1:c.1481T>C	NP_001373231.1:p.Ile494Thr
NM_001386303.1:c.1439T>C	NP_001373232.1:p.Ile480Thr
NM_001386304.1:c.1337T>C	NP_001373233.1:p.Ile446Thr
NM_001386305.1:c.1301T>C	NP_001373234.1:p.Ile434Thr
NM_001386306.1:c.1142T>C	NP_001373235.1:p.Ile381Thr