Canonical Allele Identifier: CA934768290

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392494-T-TA
• gnomAD v4: 11-6392494-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392494_6392495insA , CM000673.2:g.6392494_6392495insA	GRCh38
NC_000011.9:g.6413724_6413725insA , CM000673.1:g.6413724_6413725insA	GRCh37
NC_000011.8:g.6370300_6370301insA	NCBI36
NG_011780.1:g.7070_7071insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+338_1091+339insA MANE Select	ENSP00000340409.4:n.1091+338_1091+339insA
ENST00000342245.8:c.1091+338_1091+339insA	ENSP00000340409.4:n.1091+338_1091+339insA
ENST00000526280.1:c.320+298_320+299insA
ENST00000527275.5:c.1088+338_1088+339insA	ENSP00000435350.1:n.1088+338_1088+339insA
ENST00000531303.5:c.439-722_439-721insA	ENSP00000432625.1:n.439-722_439-721insA
ENST00000533123.5:c.1091+338_1091+339insA	ENSP00000435950.1:n.1091+338_1091+339insA
ENST00000534405.5:c.1131+298_1131+299insA	ENSP00000434353.1:n.1131+298_1131+299insA
NM_000543.4:c.1091+338_1091+339insA	NP_000534.3:n.1091+338_1091+339insA
NM_001007593.2:c.1088+338_1088+339insA	NP_001007594.2:n.1088+338_1088+339insA
XM_005253075.3:c.1091+338_1091+339insA	XP_005253132.1:n.1091+338_1091+339insA
XM_011520303.1:c.1131+298_1131+299insA	XP_011518605.1:n.1131+298_1131+299insA
XM_011520304.1:c.1131+298_1131+299insA	XP_011518606.1:n.1131+298_1131+299insA
XR_930886.1:n.1429+298_1429+299insA
NM_001318087.1:c.1091+338_1091+339insA	NP_001305016.1:n.1091+338_1091+339insA
NM_001318088.1:c.170+298_170+299insA	NP_001305017.1:n.170+298_170+299insA
NM_001365135.1:c.1131+298_1131+299insA	NP_001352064.1:n.1131+298_1131+299insA
NR_027400.2:n.1276+338_1276+339insA
NR_134502.1:n.624-722_624-721insA
XM_011520304.2:c.1131+298_1131+299insA	XP_011518606.1:n.1131+298_1131+299insA
XR_001747940.2:n.1256+298_1256+299insA
XR_002957158.1:n.1256+298_1256+299insA
NM_000543.5:c.1091+338_1091+339insA MANE Select	NP_000534.3:n.1091+338_1091+339insA
NM_001007593.3:c.1088+338_1088+339insA	NP_001007594.2:n.1088+338_1088+339insA
NM_001318087.2:c.1091+338_1091+339insA	NP_001305016.1:n.1091+338_1091+339insA
NM_001318088.2:c.170+298_170+299insA	NP_001305017.1:n.170+298_170+299insA
NM_001365135.2:c.1131+298_1131+299insA	NP_001352064.1:n.1131+298_1131+299insA
NR_027400.3:n.1216+338_1216+339insA
NR_134502.2:n.564-722_564-721insA