Canonical Allele Identifier: CA379377296

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394546-T-C
• MyVariant Identifiers: chr11:g.6415776T>C (hg19) ; chr11:g.6394546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394546T>C , CM000673.2:g.6394546T>C	GRCh38
NC_000011.9:g.6415776T>C , CM000673.1:g.6415776T>C	GRCh37
NC_000011.8:g.6372352T>C	NCBI36
NG_011780.1:g.9122T>C
NG_029615.1:g.29869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1835T>C MANE Select	ENSP00000340409.4:p.Leu612Pro
ENST00000342245.8:c.1835T>C	ENSP00000340409.4:p.Leu612Pro
ENST00000526280.1:c.892T>C
ENST00000527275.5:c.1832T>C	ENSP00000435350.1:p.Leu611Pro
ENST00000531303.5:c.*686T>C	ENSP00000432625.1:n.*686T>C
ENST00000533123.5:c.*562T>C	ENSP00000435950.1:n.*562T>C
ENST00000534405.5:c.*666T>C	ENSP00000434353.1:n.*666T>C
NM_000543.4:c.1835T>C	NP_000534.3:p.Leu612Pro
NM_001007593.2:c.1832T>C	NP_001007594.2:p.Leu611Pro
XM_005253075.3:c.*328T>C	XP_005253132.1:n.*328T>C
XM_011520303.1:c.1703T>C	XP_011518605.1:p.Leu568Pro
XM_011520304.1:c.*328T>C	XP_011518606.1:n.*328T>C
NM_001318087.1:c.*328T>C	NP_001305016.1:n.*328T>C
NM_001318088.1:c.914T>C	NP_001305017.1:p.Leu305Pro
NM_001365135.1:c.1703T>C	NP_001352064.1:p.Leu568Pro
NR_027400.2:n.1848T>C
NR_134502.1:n.1387T>C
XM_011520304.2:c.*328T>C	XP_011518606.1:n.*328T>C
XR_001747940.2:n.2020T>C
XR_002957158.1:n.2202T>C
NM_000543.5:c.1835T>C MANE Select	NP_000534.3:p.Leu612Pro
NM_001007593.3:c.1832T>C	NP_001007594.2:p.Leu611Pro
NM_001318087.2:c.*328T>C	NP_001305016.1:n.*328T>C
NM_001318088.2:c.914T>C	NP_001305017.1:p.Leu305Pro
NM_001365135.2:c.1703T>C	NP_001352064.1:p.Leu568Pro
NR_027400.3:n.1788T>C
NR_134502.2:n.1327T>C