Canonical Allele Identifier: CA343772528

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873136G>A (hg19) ; chr1:g.173903998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903998G>A , CM000663.2:g.173903998G>A	GRCh38
NC_000001.10:g.173873136G>A , CM000663.1:g.173873136G>A	GRCh37
NC_000001.9:g.172139759G>A	NCBI36
NG_012462.1:g.18381C>T , LRG_577:g.18381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1286C>T MANE Select	ENSP00000356671.3:p.Pro429Leu
ENST00000367698.3:c.1286C>T	ENSP00000356671.3:p.Pro429Leu
ENST00000617423.4:c.671C>T	ENSP00000478688.1:p.Pro224Leu
NM_000488.3:c.1286C>T , LRG_577t1:c.1286C>T	NP_000479.1:p.Pro429Leu
XM_005245198.2:c.1142C>T	XP_005245255.1:p.Pro381Leu
NM_001365052.1:c.1142C>T	NP_001351981.1:p.Pro381Leu
NM_000488.4:c.1286C>T MANE Select	NP_000479.1:p.Pro429Leu
NM_001365052.2:c.1142C>T	NP_001351981.1:p.Pro381Leu
NM_001386302.1:c.1409C>T	NP_001373231.1:p.Pro470Leu
NM_001386303.1:c.1367C>T	NP_001373232.1:p.Pro456Leu
NM_001386304.1:c.1265C>T	NP_001373233.1:p.Pro422Leu
NM_001386305.1:c.1229C>T	NP_001373234.1:p.Pro410Leu
NM_001386306.1:c.1070C>T	NP_001373235.1:p.Pro357Leu