Canonical Allele Identifier: CA3946552

Gene: SOBP

Linked Data

• dbSNP Id: rs773753008
• ExAC: 6:107955679 C / T
• gnomAD v2: 6-107955679-C-T
• gnomAD v4: 6-107634475-C-T
• MyVariant Identifiers: chr6:g.107955679C>T (hg19) ; chr6:g.107634475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634475C>T , CM000668.2:g.107634475C>T	GRCh38
NC_000006.11:g.107955679C>T , CM000668.1:g.107955679C>T	GRCh37
NC_000006.10:g.108062372C>T	NCBI36
NG_028200.1:g.149363C>T
NG_028200.2:g.149363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1631C>T MANE Select	ENSP00000318900.5:p.Pro544Leu
ENST00000317357.9:c.1631C>T	ENSP00000318900.5:p.Pro544Leu
NM_018013.3:c.1631C>T	NP_060483.3:p.Pro544Leu
XM_005267041.3:c.1784C>T	XP_005267098.1:p.Pro595Leu
XM_005267042.3:c.1688C>T	XP_005267099.1:p.Pro563Leu
XM_011535920.1:c.1784C>T	XP_011534222.1:p.Pro595Leu
XM_011535921.1:c.1670C>T	XP_011534223.1:p.Pro557Leu
XM_011535922.1:c.1043C>T	XP_011534224.1:p.Pro348Leu
XM_011535923.1:c.854C>T	XP_011534225.1:p.Pro285Leu
XM_005267041.4:c.1784C>T	XP_005267098.1:p.Pro595Leu
XM_005267042.4:c.1688C>T	XP_005267099.1:p.Pro563Leu
XM_011535920.2:c.1784C>T	XP_011534222.1:p.Pro595Leu
XM_011535921.2:c.1670C>T	XP_011534223.1:p.Pro557Leu
XM_011535923.2:c.854C>T	XP_011534225.1:p.Pro285Leu
XM_017010991.1:c.1184C>T	XP_016866480.1:p.Pro395Leu
XM_017010992.1:c.1184C>T	XP_016866481.1:p.Pro395Leu
XM_017010993.1:c.1184C>T	XP_016866482.1:p.Pro395Leu
XM_017010994.1:c.1184C>T	XP_016866483.1:p.Pro395Leu
NM_018013.4:c.1631C>T MANE Select	NP_060483.3:p.Pro544Leu