Canonical Allele Identifier: CA934779602

Gene: SMPD1

Linked Data

• dbSNP Id: rs1329984779
• gnomAD v3: 11-6390972-G-C
• gnomAD v4: 11-6390972-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390972G>C , CM000673.2:g.6390972G>C	GRCh38
NC_000011.9:g.6412202G>C , CM000673.1:g.6412202G>C	GRCh37
NC_000011.8:g.6368778G>C	NCBI36
NG_011780.1:g.5548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+56G>C MANE Select	ENSP00000340409.4:n.318+56G>C
ENST00000342245.8:c.318+56G>C	ENSP00000340409.4:n.318+56G>C
ENST00000527275.5:c.318+56G>C	ENSP00000435350.1:n.318+56G>C
ENST00000530395.1:c.-96+333G>C	ENSP00000431479.1:n.-96+333G>C
ENST00000531303.5:c.318+56G>C	ENSP00000432625.1:n.318+56G>C
ENST00000533123.5:c.318+56G>C	ENSP00000435950.1:n.318+56G>C
ENST00000533196.1:n.374+159G>C
ENST00000534405.5:c.318+56G>C	ENSP00000434353.1:n.318+56G>C
NM_000543.4:c.318+56G>C	NP_000534.3:n.318+56G>C
NM_001007593.2:c.318+56G>C	NP_001007594.2:n.318+56G>C
XM_005253075.3:c.318+56G>C	XP_005253132.1:n.318+56G>C
XM_011520303.1:c.318+56G>C	XP_011518605.1:n.318+56G>C
XM_011520304.1:c.318+56G>C	XP_011518606.1:n.318+56G>C
XR_930886.1:n.616+56G>C
NM_001318087.1:c.318+56G>C	NP_001305016.1:n.318+56G>C
NM_001318088.1:c.-644+56G>C	NP_001305017.1:n.-644+56G>C
NM_001365135.1:c.318+56G>C	NP_001352064.1:n.318+56G>C
NR_027400.2:n.503+56G>C
NR_134502.1:n.503+56G>C
XM_011520304.2:c.318+56G>C	XP_011518606.1:n.318+56G>C
XR_001747940.2:n.443+56G>C
XR_002957158.1:n.443+56G>C
NM_000543.5:c.318+56G>C MANE Select	NP_000534.3:n.318+56G>C
NM_001007593.3:c.318+56G>C	NP_001007594.2:n.318+56G>C
NM_001318087.2:c.318+56G>C	NP_001305016.1:n.318+56G>C
NM_001318088.2:c.-644+56G>C	NP_001305017.1:n.-644+56G>C
NM_001365135.2:c.318+56G>C	NP_001352064.1:n.318+56G>C
NR_027400.3:n.443+56G>C
NR_134502.2:n.443+56G>C