Canonical Allele Identifier: CA9413624

Gene: CATSPERG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38370769G>A , CM000681.2:g.38370769G>A	GRCh38
NC_000019.9:g.38861409G>A , CM000681.1:g.38861409G>A	GRCh37
NC_000019.8:g.43553249G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409235.8:c.3457G>A MANE Select	ENSP00000386962.3:p.Val1153Met
ENST00000312265.9:c.*2376G>A	ENSP00000311314.5:n.*2376G>A
ENST00000409235.7:c.3457G>A	ENSP00000386962.3:p.Val1153Met
ENST00000410018.5:c.3337G>A	ENSP00000387057.1:p.Val1113Met
ENST00000471517.5:c.*3075G>A	ENSP00000468028.1:n.*3075G>A
ENST00000492088.3:n.3589G>A
NM_021185.4:c.3457G>A	NP_067008.3:p.Val1153Met
XM_005259114.3:c.3457G>A	XP_005259171.1:p.Val1153Met
XM_005259115.3:c.3457G>A	XP_005259172.1:p.Val1153Met
XM_005259116.1:c.3277G>A	XP_005259173.1:p.Val1093Met
XM_006723308.2:c.3457G>A	XP_006723371.1:p.Val1153Met
XM_006723310.1:c.3340G>A	XP_006723373.1:p.Val1114Met
XM_006723311.1:c.3457G>A	XP_006723374.1:p.Val1153Met
XM_011527174.1:c.3457G>A	XP_011525476.1:p.Val1153Met
XM_011527175.1:c.3388G>A	XP_011525477.1:p.Val1130Met
XM_011527176.1:c.3376G>A	XP_011525478.1:p.Val1126Met
XM_011527177.1:c.3337G>A	XP_011525479.1:p.Val1113Met
XM_011527178.1:c.3112G>A	XP_011525480.1:p.Val1038Met
XM_011527182.1:c.2377G>A	XP_011525484.1:p.Val793Met
XR_935846.1:n.6166G>A
NM_001330496.1:c.3337G>A	NP_001317425.1:p.Val1113Met
XM_005259114.4:c.3457G>A	XP_005259171.1:p.Val1153Met
XM_005259115.4:c.3457G>A	XP_005259172.1:p.Val1153Met
XM_005259116.2:c.3277G>A	XP_005259173.1:p.Val1093Met
XM_006723308.3:c.3457G>A	XP_006723371.1:p.Val1153Met
XM_006723310.2:c.3340G>A	XP_006723373.1:p.Val1114Met
XM_006723311.2:c.3457G>A	XP_006723374.1:p.Val1153Met
XM_011527174.2:c.3457G>A	XP_011525476.1:p.Val1153Met
XM_011527175.2:c.3388G>A	XP_011525477.1:p.Val1130Met
XM_011527176.2:c.3376G>A	XP_011525478.1:p.Val1126Met
XM_011527177.2:c.3337G>A	XP_011525479.1:p.Val1113Met
XM_011527178.2:c.3112G>A	XP_011525480.1:p.Val1038Met
XM_011527182.2:c.2377G>A	XP_011525484.1:p.Val793Met
XM_017027054.1:c.3112G>A	XP_016882543.1:p.Val1038Met
XM_017027055.1:c.1765G>A	XP_016882544.1:p.Val589Met
XR_935846.2:n.6166G>A
NM_021185.5:c.3457G>A MANE Select	NP_067008.3:p.Val1153Met
NM_001330496.2:c.3337G>A	NP_001317425.1:p.Val1113Met