Canonical Allele Identifier: CA405636960
Gene: CATSPERG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38346487C>T , CM000681.2:g.38346487C>T GRCh38
NC_000019.9:g.38837127C>T , CM000681.1:g.38837127C>T GRCh37
NC_000019.8:g.43528967C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021185.5:c.707C>T MANE Select NP_067008.3:p.Ser236Leu
ENST00000409235.8:c.707C>T MANE Select ENSP00000386962.3:p.Ser236Leu
NM_001330496.1:c.707C>T NP_001317425.1:p.Ser236Leu
NM_001330496.2:c.707C>T NP_001317425.1:p.Ser236Leu
NM_021185.4:c.707C>T NP_067008.3:p.Ser236Leu
ENST00000312265.9:c.638C>T ENSP00000311314.5:p.Ser213Leu
ENST00000409235.7:c.707C>T ENSP00000386962.3:p.Ser236Leu
ENST00000409410.6:c.707C>T ENSP00000386950.2:p.Ser236Leu
ENST00000410018.5:c.707C>T ENSP00000387057.1:p.Ser236Leu
ENST00000412458.6:c.296C>T ENSP00000395093.2:p.Ser99Leu
ENST00000466060.5:n.335C>T
ENST00000467739.1:n.4C>T
ENST00000471517.5:c.*349C>T ENSP00000468028.1:n.*349C>T
ENST00000475343.6:c.*100C>T ENSP00000467947.1:n.*100C>T
ENST00000488473.1:n.580C>T
XM_005259114.3:c.707C>T XP_005259171.1:p.Ser236Leu
XM_005259114.4:c.707C>T XP_005259171.1:p.Ser236Leu
XM_005259115.3:c.707C>T XP_005259172.1:p.Ser236Leu
XM_005259115.4:c.707C>T XP_005259172.1:p.Ser236Leu
XM_005259116.1:c.707C>T XP_005259173.1:p.Ser236Leu
XM_005259116.2:c.707C>T XP_005259173.1:p.Ser236Leu
XM_006723308.2:c.707C>T XP_006723371.1:p.Ser236Leu
XM_006723308.3:c.707C>T XP_006723371.1:p.Ser236Leu
XM_006723310.1:c.707C>T XP_006723373.1:p.Ser236Leu
XM_006723310.2:c.707C>T XP_006723373.1:p.Ser236Leu
XM_006723311.1:c.707C>T XP_006723374.1:p.Ser236Leu
XM_006723311.2:c.707C>T XP_006723374.1:p.Ser236Leu
XM_011527174.1:c.707C>T XP_011525476.1:p.Ser236Leu
XM_011527174.2:c.707C>T XP_011525476.1:p.Ser236Leu
XM_011527175.1:c.638C>T XP_011525477.1:p.Ser213Leu
XM_011527175.2:c.638C>T XP_011525477.1:p.Ser213Leu
XM_011527176.1:c.707C>T XP_011525478.1:p.Ser236Leu
XM_011527176.2:c.707C>T XP_011525478.1:p.Ser236Leu
XM_011527177.1:c.587C>T XP_011525479.1:p.Ser196Leu
XM_011527177.2:c.587C>T XP_011525479.1:p.Ser196Leu
XM_011527178.1:c.362C>T XP_011525480.1:p.Ser121Leu
XM_011527178.2:c.362C>T XP_011525480.1:p.Ser121Leu
XM_011527179.1:c.707C>T XP_011525481.1:p.Ser236Leu
XM_011527180.1:c.707C>T XP_011525482.1:p.Ser236Leu
XM_011527181.1:c.707C>T XP_011525483.1:p.Ser236Leu
XM_011527182.1:c.-202C>T XP_011525484.1:n.-202C>T
XM_011527182.2:c.-202C>T XP_011525484.1:n.-202C>T
XM_017027054.1:c.362C>T XP_016882543.1:p.Ser121Leu
XR_935846.1:n.794C>T
XR_935846.2:n.794C>T