Canonical Allele Identifier: CA934779998

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6391640-G-GCCACCCCCC
• gnomAD v4: 11-6391640-G-GCCACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391642_6391643insACCCCCCCC , CM000673.2:g.6391642_6391643insACCCCCCCC	GRCh38
NC_000011.9:g.6412872_6412873insACCCCCCCC , CM000673.1:g.6412872_6412873insACCCCCCCC	GRCh37
NC_000011.8:g.6369448_6369449insACCCCCCCC	NCBI36
NG_011780.1:g.6218_6219insACCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.577_578insACCCCCCCC MANE Select	ENSP00000340409.4:p.Ser192_Pro193insHisPr...
ENST00000342245.8:c.577_578insACCCCCCCC	ENSP00000340409.4:p.Ser192_Pro193insHisPr...
ENST00000527275.5:c.574_575insACCCCCCCC	ENSP00000435350.1:p.Ser191_Pro192insHisPr...
ENST00000530395.1:c.-95-148_-95-147insACCCCCCCC	ENSP00000431479.1:n.-95-148_-95-147insACC...
ENST00000531303.5:c.438+139_438+140insACCCCCCCC	ENSP00000432625.1:n.438+139_438+140insACC...
ENST00000533123.5:c.577_578insACCCCCCCC	ENSP00000435950.1:p.Ser192_Pro193insHisPr...
ENST00000533196.1:n.375-364_375-363insACCCCCCCC
ENST00000534405.5:c.577_578insACCCCCCCC	ENSP00000434353.1:p.Ser192_Pro193insHisPr...
NM_000543.4:c.577_578insACCCCCCCC	NP_000534.3:p.Ser192_Pro193insHisProPro
NM_001007593.2:c.574_575insACCCCCCCC	NP_001007594.2:p.Ser191_Pro192insHisProPr...
XM_005253075.3:c.577_578insACCCCCCCC	XP_005253132.1:p.Ser192_Pro193insHisProPr...
XM_011520303.1:c.577_578insACCCCCCCC	XP_011518605.1:p.Ser192_Pro193insHisProPr...
XM_011520304.1:c.577_578insACCCCCCCC	XP_011518606.1:p.Ser192_Pro193insHisProPr...
XR_930886.1:n.875_876insACCCCCCCC
NM_001318087.1:c.577_578insACCCCCCCC	NP_001305016.1:p.Ser192_Pro193insHisProPr...
NM_001318088.1:c.-385_-384insACCCCCCCC	NP_001305017.1:n.-385_-384insACCCCCCCC
NM_001365135.1:c.577_578insACCCCCCCC	NP_001352064.1:p.Ser192_Pro193insHisProPr...
NR_027400.2:n.762_763insACCCCCCCC
NR_134502.1:n.623+139_623+140insACCCCCCCC
XM_011520304.2:c.577_578insACCCCCCCC	XP_011518606.1:p.Ser192_Pro193insHisProPr...
XR_001747940.2:n.702_703insACCCCCCCC
XR_002957158.1:n.702_703insACCCCCCCC
NM_000543.5:c.577_578insACCCCCCCC MANE Select	NP_000534.3:p.Ser192_Pro193insHisProPro
NM_001007593.3:c.574_575insACCCCCCCC	NP_001007594.2:p.Ser191_Pro192insHisProPr...
NM_001318087.2:c.577_578insACCCCCCCC	NP_001305016.1:p.Ser192_Pro193insHisProPr...
NM_001318088.2:c.-385_-384insACCCCCCCC	NP_001305017.1:n.-385_-384insACCCCCCCC
NM_001365135.2:c.577_578insACCCCCCCC	NP_001352064.1:p.Ser192_Pro193insHisProPr...
NR_027400.3:n.702_703insACCCCCCCC
NR_134502.2:n.563+139_563+140insACCCCCCCC