Canonical Allele Identifier: CA379376789

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415637A>C (hg19) ; chr11:g.6394407A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394407A>C , CM000673.2:g.6394407A>C	GRCh38
NC_000011.9:g.6415637A>C , CM000673.1:g.6415637A>C	GRCh37
NC_000011.8:g.6372213A>C	NCBI36
NG_011780.1:g.8983A>C
NG_029615.1:g.30008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1696A>C MANE Select	ENSP00000340409.4:p.Met566Leu
ENST00000342245.8:c.1696A>C	ENSP00000340409.4:p.Met566Leu
ENST00000526280.1:c.753A>C
ENST00000527275.5:c.1693A>C	ENSP00000435350.1:p.Met565Leu
ENST00000531303.5:c.*547A>C	ENSP00000432625.1:n.*547A>C
ENST00000533123.5:c.*423A>C	ENSP00000435950.1:n.*423A>C
ENST00000534405.5:c.*527A>C	ENSP00000434353.1:n.*527A>C
NM_000543.4:c.1696A>C	NP_000534.3:p.Met566Leu
NM_001007593.2:c.1693A>C	NP_001007594.2:p.Met565Leu
XM_005253075.3:c.*189A>C	XP_005253132.1:n.*189A>C
XM_011520303.1:c.1564A>C	XP_011518605.1:p.Met522Leu
XM_011520304.1:c.*189A>C	XP_011518606.1:n.*189A>C
NM_001318087.1:c.*189A>C	NP_001305016.1:n.*189A>C
NM_001318088.1:c.775A>C	NP_001305017.1:p.Met259Leu
NM_001365135.1:c.1564A>C	NP_001352064.1:p.Met522Leu
NR_027400.2:n.1709A>C
NR_134502.1:n.1248A>C
XM_011520304.2:c.*189A>C	XP_011518606.1:n.*189A>C
XR_001747940.2:n.1881A>C
XR_002957158.1:n.2063A>C
NM_000543.5:c.1696A>C MANE Select	NP_000534.3:p.Met566Leu
NM_001007593.3:c.1693A>C	NP_001007594.2:p.Met565Leu
NM_001318087.2:c.*189A>C	NP_001305016.1:n.*189A>C
NM_001318088.2:c.775A>C	NP_001305017.1:p.Met259Leu
NM_001365135.2:c.1564A>C	NP_001352064.1:p.Met522Leu
NR_027400.3:n.1649A>C
NR_134502.2:n.1188A>C