Canonical Allele Identifier: CA353669924

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93593200C>G (hg19) ; chr3:g.93874356C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874356C>G , CM000665.2:g.93874356C>G	GRCh38
NC_000003.11:g.93593200C>G , CM000665.1:g.93593200C>G	GRCh37
NC_000003.10:g.95075890C>G	NCBI36
NG_009813.1:g.104735G>C , LRG_572:g.104735G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1920G>C	ENSP00000330021.7:p.Met640Ile
ENST00000394236.9:c.1920G>C MANE Select	ENSP00000377783.3:p.Met640Ile
ENST00000407433.6:c.1875G>C	ENSP00000385794.2:p.Met625Ile
ENST00000647936.1:c.*23G>C	ENSP00000496822.1:n.*23G>C
ENST00000648381.1:n.2088G>C
ENST00000648853.1:c.1878G>C	ENSP00000497262.1:p.Met626Ile
ENST00000650591.1:c.2016G>C	ENSP00000497376.1:p.Met672Ile
ENST00000394236.7:c.1920G>C	ENSP00000377783.3:p.Met640Ile
ENST00000407433.5:c.1527G>C	ENSP00000385794.1:p.Met509Ile
NM_000313.3:c.1920G>C , LRG_572t1:c.1920G>C	NP_000304.2:p.Met640Ile
NM_001314077.1:c.2016G>C , LRG_572t2:c.2016G>C	NP_001301006.1:p.Met672Ile
NM_000313.4:c.1920G>C MANE Select	NP_000304.2:p.Met640Ile
NM_001314077.2:c.2016G>C	NP_001301006.1:p.Met672Ile