Canonical Allele Identifier: CA345667655

Gene: SDCCAG8

Linked Data

• gnomAD v4: 1-243426435-T-C
• MyVariant Identifiers: chr1:g.243589737T>C (hg19) ; chr1:g.243426435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426435T>C , CM000663.2:g.243426435T>C	GRCh38
NC_000001.10:g.243589737T>C , CM000663.1:g.243589737T>C	GRCh37
NC_000001.9:g.241656360T>C	NCBI36
NG_027811.1:g.175431T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1862T>C MANE Select	ENSP00000355499.3:p.Ile621Thr
ENST00000366541.7:c.1862T>C	ENSP00000355499.3:p.Ile621Thr
ENST00000435549.1:c.965T>C	ENSP00000410200.1:p.Ile322Thr
ENST00000463042.1:n.69T>C
NM_006642.3:c.1862T>C	NP_006633.1:p.Ile621Thr
XM_005273013.3:c.1733T>C	XP_005273070.1:p.Ile578Thr
XM_005273018.1:c.1439T>C	XP_005273075.1:p.Ile480Thr
XM_005273021.3:c.959T>C	XP_005273078.1:p.Ile320Thr
XM_005273022.2:c.941T>C	XP_005273079.1:p.Ile314Thr
XM_006711727.2:c.1892T>C	XP_006711790.1:p.Ile631Thr
XM_006711728.2:c.1763T>C	XP_006711791.1:p.Ile588Thr
XM_006711729.2:c.1703T>C	XP_006711792.1:p.Ile568Thr
XM_011544021.1:c.1988T>C	XP_011542323.1:p.Ile663Thr
XM_011544022.1:c.1958T>C	XP_011542324.1:p.Ile653Thr
XM_011544023.1:c.1988T>C	XP_011542325.1:p.Ile663Thr
XM_011544024.1:c.1988T>C	XP_011542326.1:p.Ile663Thr
XM_011544025.1:c.1799T>C	XP_011542327.1:p.Ile600Thr
XM_011544026.1:c.1751T>C	XP_011542328.1:p.Ile584Thr
XM_011544027.1:c.1574T>C	XP_011542329.1:p.Ile525Thr
XM_011544028.1:c.1526T>C	XP_011542330.1:p.Ile509Thr
XM_011544030.1:c.917T>C	XP_011542332.1:p.Ile306Thr
XR_949128.1:n.2012T>C
NM_001350246.1:c.959T>C	NP_001337175.1:p.Ile320Thr
NM_001350247.1:c.959T>C	NP_001337176.1:p.Ile320Thr
NM_001350248.1:c.1958T>C	NP_001337177.1:p.Ile653Thr
NM_001350249.1:c.1568T>C	NP_001337178.1:p.Ile523Thr
NM_001350251.1:c.959T>C	NP_001337180.1:p.Ile320Thr
NM_006642.4:c.1862T>C	NP_006633.1:p.Ile621Thr
XM_005273013.5:c.1733T>C	XP_005273070.1:p.Ile578Thr
XM_005273018.2:c.1439T>C	XP_005273075.1:p.Ile480Thr
XM_005273022.4:c.941T>C	XP_005273079.1:p.Ile314Thr
XM_011544026.3:c.1751T>C	XP_011542328.1:p.Ile584Thr
XM_011544028.3:c.1526T>C	XP_011542330.1:p.Ile509Thr
XM_011544030.3:c.917T>C	XP_011542332.1:p.Ile306Thr
XM_017000104.2:c.1733T>C	XP_016855593.1:p.Ile578Thr
XM_017000105.2:c.1625T>C	XP_016855594.1:p.Ile542Thr
XM_024452537.1:c.1664T>C	XP_024308305.1:p.Ile555Thr
XM_024452539.1:c.1664T>C	XP_024308307.1:p.Ile555Thr
XM_024452540.1:c.1664T>C	XP_024308308.1:p.Ile555Thr
XM_024452547.1:c.1568T>C	XP_024308315.1:p.Ile523Thr
XM_024452548.1:c.1664T>C	XP_024308316.1:p.Ile555Thr
XM_024452549.1:c.1331T>C	XP_024308317.1:p.Ile444Thr
XR_002958955.1:n.1904T>C
XR_002958956.1:n.1904T>C
XR_002958965.1:n.1795T>C
NM_006642.5:c.1862T>C MANE Select	NP_006633.1:p.Ile621Thr
NM_001350246.2:c.959T>C	NP_001337175.1:p.Ile320Thr
NM_001350247.2:c.959T>C	NP_001337176.1:p.Ile320Thr
NM_001350248.2:c.1958T>C	NP_001337177.1:p.Ile653Thr
NM_001350249.2:c.1568T>C	NP_001337178.1:p.Ile523Thr
NM_001350251.2:c.959T>C	NP_001337180.1:p.Ile320Thr