Canonical Allele Identifier: CA353669704

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93593168A>G (hg19) ; chr3:g.93874324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874324A>G , CM000665.2:g.93874324A>G	GRCh38
NC_000003.11:g.93593168A>G , CM000665.1:g.93593168A>G	GRCh37
NC_000003.10:g.95075858A>G	NCBI36
NG_009813.1:g.104767T>C , LRG_572:g.104767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1952T>C	ENSP00000330021.7:p.Leu651Pro
ENST00000394236.9:c.1952T>C MANE Select	ENSP00000377783.3:p.Leu651Pro
ENST00000407433.6:c.1907T>C	ENSP00000385794.2:p.Leu636Pro
ENST00000647936.1:c.*55T>C	ENSP00000496822.1:n.*55T>C
ENST00000648381.1:n.2120T>C
ENST00000648853.1:c.1910T>C	ENSP00000497262.1:p.Leu637Pro
ENST00000650591.1:c.2048T>C	ENSP00000497376.1:p.Leu683Pro
ENST00000394236.7:c.1952T>C	ENSP00000377783.3:p.Leu651Pro
ENST00000407433.5:c.1559T>C	ENSP00000385794.1:p.Leu520Pro
NM_000313.3:c.1952T>C , LRG_572t1:c.1952T>C	NP_000304.2:p.Leu651Pro
NM_001314077.1:c.2048T>C , LRG_572t2:c.2048T>C	NP_001301006.1:p.Leu683Pro
NM_000313.4:c.1952T>C MANE Select	NP_000304.2:p.Leu651Pro
NM_001314077.2:c.2048T>C	NP_001301006.1:p.Leu683Pro