Canonical Allele Identifier: CA5852469

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 593169
• ClinVar RCV Id: RCV000728133 ; RCV000915596 ; RCV001107111 ; RCV001357849 ; RCV003165955 ; RCV003908018
• dbSNP Id: rs556155962
• ExAC: 11:6411911 C / T
• gnomAD v2: 11-6411911-C-T
• gnomAD v3: 11-6390681-C-T
• gnomAD v4: 11-6390681-C-T
• MyVariant Identifiers: chr11:g.6411911C>T (hg19) ; chr11:g.6390681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390681C>T , CM000673.2:g.6390681C>T	GRCh38
NC_000011.9:g.6411911C>T , CM000673.1:g.6411911C>T	GRCh37
NC_000011.8:g.6368487C>T	NCBI36
NG_011780.1:g.5257C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.83C>T MANE Select	ENSP00000340409.4:p.Pro28Leu
ENST00000342245.8:c.83C>T	ENSP00000340409.4:p.Pro28Leu
ENST00000527275.5:c.83C>T	ENSP00000435350.1:p.Pro28Leu
ENST00000530395.1:c.-96+42C>T	ENSP00000431479.1:n.-96+42C>T
ENST00000531303.5:c.83C>T	ENSP00000432625.1:p.Pro28Leu
ENST00000533123.5:c.83C>T	ENSP00000435950.1:p.Pro28Leu
ENST00000533196.1:n.242C>T
ENST00000534405.5:c.83C>T	ENSP00000434353.1:p.Pro28Leu
NM_000543.4:c.83C>T	NP_000534.3:p.Pro28Leu
NM_001007593.2:c.83C>T	NP_001007594.2:p.Pro28Leu
XM_005253075.3:c.83C>T	XP_005253132.1:p.Pro28Leu
XM_011520303.1:c.83C>T	XP_011518605.1:p.Pro28Leu
XM_011520304.1:c.83C>T	XP_011518606.1:p.Pro28Leu
XR_930886.1:n.381C>T
NM_001318087.1:c.83C>T	NP_001305016.1:p.Pro28Leu
NM_001318088.1:c.-879C>T	NP_001305017.1:n.-879C>T
NM_001365135.1:c.83C>T	NP_001352064.1:p.Pro28Leu
NR_027400.2:n.268C>T
NR_134502.1:n.268C>T
XM_011520304.2:c.83C>T	XP_011518606.1:p.Pro28Leu
XR_001747940.2:n.208C>T
XR_002957158.1:n.208C>T
NM_000543.5:c.83C>T MANE Select	NP_000534.3:p.Pro28Leu
NM_001007593.3:c.83C>T	NP_001007594.2:p.Pro28Leu
NM_001318087.2:c.83C>T	NP_001305016.1:p.Pro28Leu
NM_001318088.2:c.-879C>T	NP_001305017.1:n.-879C>T
NM_001365135.2:c.83C>T	NP_001352064.1:p.Pro28Leu
NR_027400.3:n.208C>T
NR_134502.2:n.208C>T