Canonical Allele Identifier: CA379376250

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415503T>C (hg19) ; chr11:g.6394273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394273T>C , CM000673.2:g.6394273T>C	GRCh38
NC_000011.9:g.6415503T>C , CM000673.1:g.6415503T>C	GRCh37
NC_000011.8:g.6372079T>C	NCBI36
NG_011780.1:g.8849T>C
NG_029615.1:g.30142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1562T>C MANE Select	ENSP00000340409.4:p.Leu521Pro
ENST00000342245.8:c.1562T>C	ENSP00000340409.4:p.Leu521Pro
ENST00000526280.1:c.619T>C
ENST00000527275.5:c.1559T>C	ENSP00000435350.1:p.Leu520Pro
ENST00000531303.5:c.*413T>C	ENSP00000432625.1:n.*413T>C
ENST00000531336.1:n.550T>C
ENST00000533123.5:c.*289T>C	ENSP00000435950.1:n.*289T>C
ENST00000534405.5:c.*393T>C	ENSP00000434353.1:n.*393T>C
NM_000543.4:c.1562T>C	NP_000534.3:p.Leu521Pro
NM_001007593.2:c.1559T>C	NP_001007594.2:p.Leu520Pro
XM_005253075.3:c.*55T>C	XP_005253132.1:n.*55T>C
XM_011520303.1:c.1430T>C	XP_011518605.1:p.Leu477Pro
XM_011520304.1:c.*55T>C	XP_011518606.1:n.*55T>C
NM_001318087.1:c.*55T>C	NP_001305016.1:n.*55T>C
NM_001318088.1:c.641T>C	NP_001305017.1:p.Leu214Pro
NM_001365135.1:c.1430T>C	NP_001352064.1:p.Leu477Pro
NR_027400.2:n.1575T>C
NR_134502.1:n.1114T>C
XM_011520304.2:c.*55T>C	XP_011518606.1:n.*55T>C
XR_001747940.2:n.1747T>C
XR_002957158.1:n.1929T>C
NM_000543.5:c.1562T>C MANE Select	NP_000534.3:p.Leu521Pro
NM_001007593.3:c.1559T>C	NP_001007594.2:p.Leu520Pro
NM_001318087.2:c.*55T>C	NP_001305016.1:n.*55T>C
NM_001318088.2:c.641T>C	NP_001305017.1:p.Leu214Pro
NM_001365135.2:c.1430T>C	NP_001352064.1:p.Leu477Pro
NR_027400.3:n.1515T>C
NR_134502.2:n.1054T>C