Canonical Allele Identifier: CA345667674

Gene: SDCCAG8

Linked Data

• MyVariant Identifiers: chr1:g.243589746T>C (hg19) ; chr1:g.243426444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426444T>C , CM000663.2:g.243426444T>C	GRCh38
NC_000001.10:g.243589746T>C , CM000663.1:g.243589746T>C	GRCh37
NC_000001.9:g.241656369T>C	NCBI36
NG_027811.1:g.175440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1871T>C MANE Select	ENSP00000355499.3:p.Leu624Pro
ENST00000366541.7:c.1871T>C	ENSP00000355499.3:p.Leu624Pro
ENST00000435549.1:c.974T>C	ENSP00000410200.1:p.Leu325Pro
ENST00000463042.1:n.78T>C
NM_006642.3:c.1871T>C	NP_006633.1:p.Leu624Pro
XM_005273013.3:c.1742T>C	XP_005273070.1:p.Leu581Pro
XM_005273018.1:c.1448T>C	XP_005273075.1:p.Leu483Pro
XM_005273021.3:c.968T>C	XP_005273078.1:p.Leu323Pro
XM_005273022.2:c.950T>C	XP_005273079.1:p.Leu317Pro
XM_006711727.2:c.1901T>C	XP_006711790.1:p.Leu634Pro
XM_006711728.2:c.1772T>C	XP_006711791.1:p.Leu591Pro
XM_006711729.2:c.1712T>C	XP_006711792.1:p.Leu571Pro
XM_011544021.1:c.1997T>C	XP_011542323.1:p.Leu666Pro
XM_011544022.1:c.1967T>C	XP_011542324.1:p.Leu656Pro
XM_011544023.1:c.1997T>C	XP_011542325.1:p.Leu666Pro
XM_011544024.1:c.1997T>C	XP_011542326.1:p.Leu666Pro
XM_011544025.1:c.1808T>C	XP_011542327.1:p.Leu603Pro
XM_011544026.1:c.1760T>C	XP_011542328.1:p.Leu587Pro
XM_011544027.1:c.1583T>C	XP_011542329.1:p.Leu528Pro
XM_011544028.1:c.1535T>C	XP_011542330.1:p.Leu512Pro
XM_011544030.1:c.926T>C	XP_011542332.1:p.Leu309Pro
XR_949128.1:n.2021T>C
NM_001350246.1:c.968T>C	NP_001337175.1:p.Leu323Pro
NM_001350247.1:c.968T>C	NP_001337176.1:p.Leu323Pro
NM_001350248.1:c.1967T>C	NP_001337177.1:p.Leu656Pro
NM_001350249.1:c.1577T>C	NP_001337178.1:p.Leu526Pro
NM_001350251.1:c.968T>C	NP_001337180.1:p.Leu323Pro
NM_006642.4:c.1871T>C	NP_006633.1:p.Leu624Pro
XM_005273013.5:c.1742T>C	XP_005273070.1:p.Leu581Pro
XM_005273018.2:c.1448T>C	XP_005273075.1:p.Leu483Pro
XM_005273022.4:c.950T>C	XP_005273079.1:p.Leu317Pro
XM_011544026.3:c.1760T>C	XP_011542328.1:p.Leu587Pro
XM_011544028.3:c.1535T>C	XP_011542330.1:p.Leu512Pro
XM_011544030.3:c.926T>C	XP_011542332.1:p.Leu309Pro
XM_017000104.2:c.1742T>C	XP_016855593.1:p.Leu581Pro
XM_017000105.2:c.1634T>C	XP_016855594.1:p.Leu545Pro
XM_024452537.1:c.1673T>C	XP_024308305.1:p.Leu558Pro
XM_024452539.1:c.1673T>C	XP_024308307.1:p.Leu558Pro
XM_024452540.1:c.1673T>C	XP_024308308.1:p.Leu558Pro
XM_024452547.1:c.1577T>C	XP_024308315.1:p.Leu526Pro
XM_024452548.1:c.1673T>C	XP_024308316.1:p.Leu558Pro
XM_024452549.1:c.1340T>C	XP_024308317.1:p.Leu447Pro
XR_002958955.1:n.1913T>C
XR_002958956.1:n.1913T>C
XR_002958965.1:n.1804T>C
NM_006642.5:c.1871T>C MANE Select	NP_006633.1:p.Leu624Pro
NM_001350246.2:c.968T>C	NP_001337175.1:p.Leu323Pro
NM_001350247.2:c.968T>C	NP_001337176.1:p.Leu323Pro
NM_001350248.2:c.1967T>C	NP_001337177.1:p.Leu656Pro
NM_001350249.2:c.1577T>C	NP_001337178.1:p.Leu526Pro
NM_001350251.2:c.968T>C	NP_001337180.1:p.Leu323Pro