Canonical Allele Identifier: CA2612224278

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394787-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394787G>C , CM000673.2:g.6394787G>C	GRCh38
NC_000011.9:g.6416017G>C , CM000673.1:g.6416017G>C	GRCh37
NC_000011.8:g.6372593G>C	NCBI36
NG_011780.1:g.9363G>C
NG_029615.1:g.29628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*180G>C MANE Select	ENSP00000340409.4:n.*180G>C
ENST00000342245.8:c.*180G>C	ENSP00000340409.4:n.*180G>C
ENST00000526280.1:c.1133G>C
ENST00000533123.5:c.*803G>C	ENSP00000435950.1:n.*803G>C
ENST00000534405.5:c.*907G>C	ENSP00000434353.1:n.*907G>C
NM_000543.4:c.*180G>C	NP_000534.3:n.*180G>C
NM_001007593.2:c.*180G>C	NP_001007594.2:n.*180G>C
XM_011520303.1:c.*180G>C	XP_011518605.1:n.*180G>C
NM_001318087.1:c.*569G>C	NP_001305016.1:n.*569G>C
NM_001318088.1:c.*180G>C	NP_001305017.1:n.*180G>C
NM_001365135.1:c.*180G>C	NP_001352064.1:n.*180G>C
NR_027400.2:n.2089G>C
NR_134502.1:n.1628G>C
XR_001747940.2:n.2261G>C
XR_002957158.1:n.2443G>C
NM_000543.5:c.*180G>C MANE Select	NP_000534.3:n.*180G>C
NM_001007593.3:c.*180G>C	NP_001007594.2:n.*180G>C
NM_001318087.2:c.*569G>C	NP_001305016.1:n.*569G>C
NM_001318088.2:c.*180G>C	NP_001305017.1:n.*180G>C
NM_001365135.2:c.*180G>C	NP_001352064.1:n.*180G>C
NR_027400.3:n.2029G>C
NR_134502.2:n.1568G>C