Canonical Allele Identifier: CA353673152
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900845G>A , CM000665.2:g.93900845G>A GRCh38
NC_000003.11:g.93619689G>A , CM000665.1:g.93619689G>A GRCh37
NC_000003.10:g.95102379G>A NCBI36
NG_009813.1:g.78246C>T , LRG_572:g.78246C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.686C>T ENSP00000330021.7:p.Pro229Leu
ENST00000394236.9:c.686C>T MANE Select ENSP00000377783.3:p.Pro229Leu
ENST00000407433.6:c.641C>T ENSP00000385794.2:p.Pro214Leu
ENST00000647936.1:c.686C>T ENSP00000496822.1:p.Pro229Leu
ENST00000648381.1:n.854C>T
ENST00000648853.1:c.644C>T ENSP00000497262.1:p.Pro215Leu
ENST00000649103.1:c.785C>T ENSP00000497962.1:n.785C>T
ENST00000650591.1:c.782C>T ENSP00000497376.1:p.Pro261Leu
ENST00000394236.7:c.686C>T ENSP00000377783.3:p.Pro229Leu
ENST00000407433.5:c.293C>T ENSP00000385794.1:p.Pro98Leu
NM_000313.3:c.686C>T , LRG_572t1:c.686C>T NP_000304.2:p.Pro229Leu
NM_001314077.1:c.782C>T , LRG_572t2:c.782C>T NP_001301006.1:p.Pro261Leu
NM_000313.4:c.686C>T MANE Select NP_000304.2:p.Pro229Leu
NM_001314077.2:c.782C>T NP_001301006.1:p.Pro261Leu