Canonical Allele Identifier: CA2612223301

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393715-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393715G>C , CM000673.2:g.6393715G>C	GRCh38
NC_000011.9:g.6414945G>C , CM000673.1:g.6414945G>C	GRCh37
NC_000011.8:g.6371521G>C	NCBI36
NG_011780.1:g.8291G>C
NG_029615.1:g.30700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1340+22G>C MANE Select	ENSP00000340409.4:n.1340+22G>C
ENST00000342245.8:c.1340+22G>C	ENSP00000340409.4:n.1340+22G>C
ENST00000526280.1:c.397+22G>C
ENST00000527275.5:c.1337+22G>C	ENSP00000435350.1:n.1337+22G>C
ENST00000531303.5:c.*171+22G>C	ENSP00000432625.1:n.*171+22G>C
ENST00000531336.1:n.172+22G>C
ENST00000532367.1:n.176+22G>C
ENST00000533123.5:c.*67+22G>C	ENSP00000435950.1:n.*67+22G>C
ENST00000534405.5:c.*171+22G>C	ENSP00000434353.1:n.*171+22G>C
NM_000543.4:c.1340+22G>C	NP_000534.3:n.1340+22G>C
NM_001007593.2:c.1337+22G>C	NP_001007594.2:n.1337+22G>C
XM_005253075.3:c.1340+22G>C	XP_005253132.1:n.1340+22G>C
XM_011520303.1:c.1208+22G>C	XP_011518605.1:n.1208+22G>C
XM_011520304.1:c.1208+22G>C	XP_011518606.1:n.1208+22G>C
XR_930886.1:n.1678+22G>C
NM_001318087.1:c.1340+22G>C	NP_001305016.1:n.1340+22G>C
NM_001318088.1:c.419+22G>C	NP_001305017.1:n.419+22G>C
NM_001365135.1:c.1208+22G>C	NP_001352064.1:n.1208+22G>C
NR_027400.2:n.1353+22G>C
NR_134502.1:n.872+22G>C
XM_011520304.2:c.1208+22G>C	XP_011518606.1:n.1208+22G>C
XR_001747940.2:n.1505+22G>C
XR_002957158.1:n.1527G>C
NM_000543.5:c.1340+22G>C MANE Select	NP_000534.3:n.1340+22G>C
NM_001007593.3:c.1337+22G>C	NP_001007594.2:n.1337+22G>C
NM_001318087.2:c.1340+22G>C	NP_001305016.1:n.1340+22G>C
NM_001318088.2:c.419+22G>C	NP_001305017.1:n.419+22G>C
NM_001365135.2:c.1208+22G>C	NP_001352064.1:n.1208+22G>C
NR_027400.3:n.1293+22G>C
NR_134502.2:n.812+22G>C