Canonical Allele Identifier: CA365170646

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634490-C-T
• MyVariant Identifiers: chr6:g.107955694C>T (hg19) ; chr6:g.107634490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634490C>T , CM000668.2:g.107634490C>T	GRCh38
NC_000006.11:g.107955694C>T , CM000668.1:g.107955694C>T	GRCh37
NC_000006.10:g.108062387C>T	NCBI36
NG_028200.1:g.149378C>T
NG_028200.2:g.149378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1646C>T MANE Select	ENSP00000318900.5:p.Ser549Phe
ENST00000317357.9:c.1646C>T	ENSP00000318900.5:p.Ser549Phe
NM_018013.3:c.1646C>T	NP_060483.3:p.Ser549Phe
XM_005267041.3:c.1799C>T	XP_005267098.1:p.Ser600Phe
XM_005267042.3:c.1703C>T	XP_005267099.1:p.Ser568Phe
XM_011535920.1:c.1799C>T	XP_011534222.1:p.Ser600Phe
XM_011535921.1:c.1685C>T	XP_011534223.1:p.Ser562Phe
XM_011535922.1:c.1058C>T	XP_011534224.1:p.Ser353Phe
XM_011535923.1:c.869C>T	XP_011534225.1:p.Ser290Phe
XM_005267041.4:c.1799C>T	XP_005267098.1:p.Ser600Phe
XM_005267042.4:c.1703C>T	XP_005267099.1:p.Ser568Phe
XM_011535920.2:c.1799C>T	XP_011534222.1:p.Ser600Phe
XM_011535921.2:c.1685C>T	XP_011534223.1:p.Ser562Phe
XM_011535923.2:c.869C>T	XP_011534225.1:p.Ser290Phe
XM_017010991.1:c.1199C>T	XP_016866480.1:p.Ser400Phe
XM_017010992.1:c.1199C>T	XP_016866481.1:p.Ser400Phe
XM_017010993.1:c.1199C>T	XP_016866482.1:p.Ser400Phe
XM_017010994.1:c.1199C>T	XP_016866483.1:p.Ser400Phe
NM_018013.4:c.1646C>T MANE Select	NP_060483.3:p.Ser549Phe