Canonical Allele Identifier: CA10623350

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 355953
• ClinVar RCV Id: RCV000290160 ; RCV000384594
• dbSNP Id: rs564226533
• gnomAD v2: 6-152949699-A-G
• gnomAD v3: 6-152628564-A-G
• gnomAD v4: 6-152628564-A-G
• MyVariant Identifiers: chr6:g.152949699A>G (hg19) ; chr6:g.152628564A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152628564A>G , CM000668.2:g.152628564A>G	GRCh38
NC_000006.11:g.152949699A>G , CM000668.1:g.152949699A>G	GRCh37
NC_000006.10:g.152991392A>G	NCBI36
NG_012855.1:g.13836T>C
NG_012855.2:g.13836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610489.2:c.-223-10T>C	ENSP00000481873.2:n.-223-10T>C
ENST00000367255.10:c.-223-10T>C MANE Select	ENSP00000356224.5:n.-223-10T>C
ENST00000423061.6:c.-223-10T>C	ENSP00000396024.1:n.-223-10T>C
ENST00000673163.1:c.-223-10T>C	ENSP00000499934.1:n.-223-10T>C
ENST00000341594.9:c.-274-10T>C	ENSP00000341887.6:n.-274-10T>C
ENST00000367248.7:c.-223-10T>C	ENSP00000356217.3:n.-223-10T>C
ENST00000367255.9:c.-223-10T>C	ENSP00000356224.5:n.-223-10T>C
ENST00000423061.5:c.-223-10T>C	ENSP00000396024.1:n.-223-10T>C
ENST00000461872.6:n.47-10T>C
ENST00000537750.5:c.-223-10T>C	ENSP00000441264.1:n.-223-10T>C
ENST00000610489.1:c.-274-10T>C	ENSP00000481873.1:n.-274-10T>C
NM_033071.3:c.-223-10T>C	NP_149062.1:n.-223-10T>C
NM_182961.3:c.-223-10T>C	NP_892006.3:n.-223-10T>C
XM_006715407.1:c.-223-10T>C	XP_006715470.1:n.-223-10T>C
XM_006715408.1:c.-223-10T>C	XP_006715471.1:n.-223-10T>C
XM_006715409.1:c.-223-10T>C	XP_006715472.1:n.-223-10T>C
XM_006715410.1:c.-223-10T>C	XP_006715473.1:n.-223-10T>C
XM_006715411.1:c.-223-10T>C	XP_006715474.1:n.-223-10T>C
XM_006715412.1:c.-223-10T>C	XP_006715475.1:n.-223-10T>C
XM_006715413.1:c.-223-10T>C	XP_006715476.1:n.-223-10T>C
XM_006715414.1:c.-223-10T>C	XP_006715477.1:n.-223-10T>C
XM_006715415.1:c.-223-10T>C	XP_006715478.1:n.-223-10T>C
XM_006715416.1:c.-223-10T>C	XP_006715479.1:n.-223-10T>C
XM_006715417.1:c.-223-10T>C	XP_006715480.1:n.-223-10T>C
XM_006715420.1:c.-223-10T>C	XP_006715483.1:n.-223-10T>C
XM_006715421.1:c.-223-10T>C	XP_006715484.1:n.-223-10T>C
XM_006715422.1:c.-223-10T>C	XP_006715485.1:n.-223-10T>C
XM_006715423.1:c.-223-10T>C	XP_006715486.1:n.-223-10T>C
XM_006715424.1:c.-223-10T>C	XP_006715487.1:n.-223-10T>C
XM_006715425.1:c.-223-10T>C	XP_006715488.1:n.-223-10T>C
XM_011535641.1:c.-223-10T>C	XP_011533943.1:n.-223-10T>C
XM_011535642.1:c.-223-10T>C	XP_011533944.1:n.-223-10T>C
XM_011535643.1:c.-223-10T>C	XP_011533945.1:n.-223-10T>C
XM_011535646.1:c.-223-10T>C	XP_011533948.1:n.-223-10T>C
XM_006715408.2:c.-223-10T>C	XP_006715471.1:n.-223-10T>C
XM_006715410.2:c.-223-10T>C	XP_006715473.1:n.-223-10T>C
XM_006715412.2:c.-223-10T>C	XP_006715475.1:n.-223-10T>C
XM_006715413.2:c.-223-10T>C	XP_006715476.1:n.-223-10T>C
XM_006715415.2:c.-223-10T>C	XP_006715478.1:n.-223-10T>C
XM_006715416.2:c.-223-10T>C	XP_006715479.1:n.-223-10T>C
XM_006715417.2:c.-223-10T>C	XP_006715480.1:n.-223-10T>C
XM_006715420.2:c.-223-10T>C	XP_006715483.1:n.-223-10T>C
XM_006715421.2:c.-223-10T>C	XP_006715484.1:n.-223-10T>C
XM_006715423.2:c.-223-10T>C	XP_006715486.1:n.-223-10T>C
XM_006715424.2:c.-223-10T>C	XP_006715487.1:n.-223-10T>C
XM_006715425.2:c.-223-10T>C	XP_006715488.1:n.-223-10T>C
XM_011535641.2:c.-223-10T>C	XP_011533943.1:n.-223-10T>C
XM_011535642.2:c.-223-10T>C	XP_011533944.1:n.-223-10T>C
XM_017010608.1:c.-223-10T>C	XP_016866097.1:n.-223-10T>C
XM_017010609.1:c.-223-10T>C	XP_016866098.1:n.-223-10T>C
XM_017010610.1:c.-223-10T>C	XP_016866099.1:n.-223-10T>C
XM_017010613.1:c.-223-10T>C	XP_016866102.1:n.-223-10T>C
XM_017010614.1:c.-223-10T>C	XP_016866103.1:n.-223-10T>C
XM_017010615.1:c.-223-10T>C	XP_016866104.1:n.-223-10T>C
XM_017010616.1:c.-223-10T>C	XP_016866105.1:n.-223-10T>C
XM_017010617.1:c.-223-10T>C	XP_016866106.1:n.-223-10T>C
XM_017010618.1:c.-223-10T>C	XP_016866107.1:n.-223-10T>C
XR_001743287.1:n.261-10T>C
NM_182961.4:c.-223-10T>C MANE Select	NP_892006.3:n.-223-10T>C
NM_033071.5:c.-223-10T>C	NP_149062.2:n.-223-10T>C