Canonical Allele Identifier: CA40477487

Gene: SPMIP3

Linked Data

• dbSNP Id: rs894475196
• gnomAD v2: 1-244533159-G-A
• gnomAD v3: 1-244369857-G-A
• gnomAD v4: 1-244369857-G-A
• MyVariant Identifiers: chr1:g.244533159G>A (hg19) ; chr1:g.244369857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244369857G>A , CM000663.2:g.244369857G>A	GRCh38
NC_000001.10:g.244533159G>A , CM000663.1:g.244533159G>A	GRCh37
NC_000001.9:g.242599782G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308105.5:c.56+5101G>A MANE Select	ENSP00000311218.4:n.56+5101G>A
ENST00000308105.4:c.56+5101G>A	ENSP00000311218.4:n.56+5101G>A
ENST00000366537.5:c.56+5101G>A	ENSP00000355495.1:n.56+5101G>A
ENST00000486803.1:n.155+5101G>A
NM_001012970.2:c.56+5101G>A	NP_001012988.1:n.56+5101G>A
NM_001276348.1:c.56+5101G>A	NP_001263277.1:n.56+5101G>A
NM_001276349.1:c.56+5101G>A	NP_001263278.1:n.56+5101G>A
XM_011544123.1:c.98+5101G>A	XP_011542425.1:n.98+5101G>A
XM_011544124.1:c.98+5101G>A	XP_011542426.1:n.98+5101G>A
XM_011544125.1:c.56+5101G>A	XP_011542427.1:n.56+5101G>A
XM_011544126.1:c.56+5101G>A	XP_011542428.1:n.56+5101G>A
XM_011544127.1:c.56+5101G>A	XP_011542429.1:n.56+5101G>A
XM_011544128.1:c.56+5101G>A	XP_011542430.1:n.56+5101G>A
XM_011544129.1:c.98+5101G>A	XP_011542431.1:n.98+5101G>A
XM_011544130.1:c.98+5101G>A	XP_011542432.1:n.98+5101G>A
XR_949346.1:n.576+5495C>T
XR_949347.1:n.573+5495C>T
XM_011544124.2:c.98+5101G>A	XP_011542426.1:n.98+5101G>A
XM_011544125.2:c.56+5101G>A	XP_011542427.1:n.56+5101G>A
XM_011544128.2:c.56+5101G>A	XP_011542430.1:n.56+5101G>A
XM_011544129.3:c.98+5101G>A	XP_011542431.1:n.98+5101G>A
XM_011544130.2:c.98+5101G>A	XP_011542432.1:n.98+5101G>A
XM_017000571.2:c.98+5101G>A	XP_016856060.1:n.98+5101G>A
XM_017000572.1:c.98+5101G>A	XP_016856061.1:n.98+5101G>A
NM_001012970.3:c.56+5101G>A MANE Select	NP_001012988.1:n.56+5101G>A
NM_001276348.2:c.56+5101G>A	NP_001263277.1:n.56+5101G>A
NM_001276349.2:c.56+5101G>A	NP_001263278.1:n.56+5101G>A