Canonical Allele Identifier: CA3117524

Gene: GUCY1A1

Linked Data

• dbSNP Id: rs749969917
• ExAC: 4:156651227 G / T
• gnomAD v2: 4-156651227-G-T
• MyVariant Identifiers: chr4:g.156651227G>T (hg19) ; chr4:g.155730075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.155730075G>T , CM000666.2:g.155730075G>T	GRCh38
NC_000004.11:g.156651227G>T , CM000666.1:g.156651227G>T	GRCh37
NC_000004.10:g.156870677G>T	NCBI36
NG_034128.1:g.68366G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506455.6:c.1917G>T MANE Select	ENSP00000424361.1:p.Arg639Ser
ENST00000296518.11:c.1917G>T	ENSP00000296518.7:p.Arg639Ser
ENST00000393832.7:c.1143G>T	ENSP00000377418.3:p.Arg381Ser
ENST00000443668.6:c.*1360G>T	ENSP00000409903.2:n.*1360G>T
ENST00000455639.6:c.1917G>T	ENSP00000412201.2:p.Arg639Ser
ENST00000506455.5:c.1917G>T	ENSP00000424361.1:p.Arg639Ser
ENST00000509901.5:c.*289G>T	ENSP00000424863.1:n.*289G>T
ENST00000511108.5:c.1917G>T	ENSP00000421493.1:p.Arg639Ser
ENST00000513574.1:c.1917G>T	ENSP00000426040.1:p.Arg639Ser
ENST00000515201.5:c.*289G>T	ENSP00000422141.1:n.*289G>T
ENST00000621234.4:c.*289G>T	ENSP00000479710.1:n.*289G>T
NM_000856.5:c.1917G>T	NP_000847.2:p.Arg639Ser
NM_001130682.2:c.1917G>T	NP_001124154.1:p.Arg639Ser
NM_001130683.3:c.1917G>T	NP_001124155.1:p.Arg639Ser
NM_001130684.2:c.1917G>T	NP_001124156.1:p.Arg639Ser
NM_001130685.2:c.1212G>T	NP_001124157.1:p.Arg404Ser
NM_001256449.1:c.1917G>T	NP_001243378.1:p.Arg639Ser
XM_005262955.1:c.1917G>T	XP_005263012.1:p.Arg639Ser
XM_005262956.1:c.1212G>T	XP_005263013.1:p.Arg404Ser
XM_005262957.1:c.1212G>T	XP_005263014.1:p.Arg404Ser
XM_006714196.1:c.1917G>T	XP_006714259.1:p.Arg639Ser
XM_006714197.1:c.1917G>T	XP_006714260.1:p.Arg639Ser
XM_006714198.1:c.1212G>T	XP_006714261.1:p.Arg404Ser
XM_011531899.1:c.1917G>T	XP_011530201.1:p.Arg639Ser
XM_011531900.1:c.1212G>T	XP_011530202.1:p.Arg404Ser
XR_939379.1:n.1262-2040C>A
XR_939380.1:n.1262-2040C>A
XR_939381.1:n.1262-2099C>A
XR_939382.1:n.1085-2040C>A
XR_939383.1:n.670-2040C>A
XR_939384.1:n.1262-2040C>A
XR_939385.1:n.578-2040C>A
XR_939386.1:n.1262-2040C>A
XR_939387.1:n.1262-2040C>A
XR_939388.1:n.1262-2040C>A
XM_005262955.3:c.1917G>T	XP_005263012.1:p.Arg639Ser
XM_005262956.3:c.1212G>T	XP_005263013.1:p.Arg404Ser
XM_005262957.3:c.1212G>T	XP_005263014.1:p.Arg404Ser
XM_006714196.2:c.1917G>T	XP_006714259.1:p.Arg639Ser
XM_006714197.2:c.1917G>T	XP_006714260.1:p.Arg639Ser
XM_011531900.2:c.1212G>T	XP_011530202.1:p.Arg404Ser
XR_001741896.1:n.2539-2099C>A
XR_001741897.1:n.2525-2099C>A
XR_001741898.1:n.1281-2099C>A
XR_001741899.1:n.689-2099C>A
NM_000856.6:c.1917G>T	NP_000847.2:p.Arg639Ser
NM_001130682.3:c.1917G>T MANE Select	NP_001124154.1:p.Arg639Ser
NM_001130683.4:c.1917G>T	NP_001124155.1:p.Arg639Ser
NM_001130684.3:c.1917G>T	NP_001124156.1:p.Arg639Ser
NM_001130685.3:c.1212G>T	NP_001124157.1:p.Arg404Ser
NM_001256449.2:c.1917G>T	NP_001243378.1:p.Arg639Ser
NM_001379666.1:c.1917G>T	NP_001366595.1:p.Arg639Ser
NM_001379667.1:c.1917G>T	NP_001366596.1:p.Arg639Ser
NM_001379668.1:c.1917G>T	NP_001366597.1:p.Arg639Ser
NM_001379669.1:c.1917G>T	NP_001366598.1:p.Arg639Ser
NM_001379670.1:c.1917G>T	NP_001366599.1:p.Arg639Ser
NM_001379671.1:c.1917G>T	NP_001366600.1:p.Arg639Ser
NM_001379672.1:c.1917G>T	NP_001366601.1:p.Arg639Ser
NM_001379673.1:c.1917G>T	NP_001366602.1:p.Arg639Ser
NM_001379674.1:c.1917G>T	NP_001366603.1:p.Arg639Ser
NM_001379675.1:c.1762G>T	NP_001366604.1:p.Gly588Ter
NM_001379676.1:c.1410G>T	NP_001366605.1:p.Arg470Ser