Canonical Allele Identifier: CA358542738

Gene: GUCY1A1

Linked Data

• MyVariant Identifiers: chr4:g.156651253G>C (hg19) ; chr4:g.155730101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.155730101G>C , CM000666.2:g.155730101G>C	GRCh38
NC_000004.11:g.156651253G>C , CM000666.1:g.156651253G>C	GRCh37
NC_000004.10:g.156870703G>C	NCBI36
NG_034128.1:g.68392G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506455.6:c.1943G>C MANE Select	ENSP00000424361.1:p.Ser648Thr
ENST00000296518.11:c.1943G>C	ENSP00000296518.7:p.Ser648Thr
ENST00000393832.7:c.1169G>C	ENSP00000377418.3:p.Ser390Thr
ENST00000443668.6:c.*1386G>C	ENSP00000409903.2:n.*1386G>C
ENST00000455639.6:c.1943G>C	ENSP00000412201.2:p.Ser648Thr
ENST00000506455.5:c.1943G>C	ENSP00000424361.1:p.Ser648Thr
ENST00000509901.5:c.*315G>C	ENSP00000424863.1:n.*315G>C
ENST00000511108.5:c.1943G>C	ENSP00000421493.1:p.Ser648Thr
ENST00000513574.1:c.1943G>C	ENSP00000426040.1:p.Ser648Thr
ENST00000515201.5:c.*315G>C	ENSP00000422141.1:n.*315G>C
ENST00000621234.4:c.*315G>C	ENSP00000479710.1:n.*315G>C
NM_000856.5:c.1943G>C	NP_000847.2:p.Ser648Thr
NM_001130682.2:c.1943G>C	NP_001124154.1:p.Ser648Thr
NM_001130683.3:c.1943G>C	NP_001124155.1:p.Ser648Thr
NM_001130684.2:c.1943G>C	NP_001124156.1:p.Ser648Thr
NM_001130685.2:c.1238G>C	NP_001124157.1:p.Ser413Thr
NM_001256449.1:c.1943G>C	NP_001243378.1:p.Ser648Thr
XM_005262955.1:c.1943G>C	XP_005263012.1:p.Ser648Thr
XM_005262956.1:c.1238G>C	XP_005263013.1:p.Ser413Thr
XM_005262957.1:c.1238G>C	XP_005263014.1:p.Ser413Thr
XM_006714196.1:c.1943G>C	XP_006714259.1:p.Ser648Thr
XM_006714197.1:c.1943G>C	XP_006714260.1:p.Ser648Thr
XM_006714198.1:c.1238G>C	XP_006714261.1:p.Ser413Thr
XM_011531899.1:c.1943G>C	XP_011530201.1:p.Ser648Thr
XM_011531900.1:c.1238G>C	XP_011530202.1:p.Ser413Thr
XR_939379.1:n.1262-2066C>G
XR_939380.1:n.1262-2066C>G
XR_939381.1:n.1262-2125C>G
XR_939382.1:n.1085-2066C>G
XR_939383.1:n.670-2066C>G
XR_939384.1:n.1262-2066C>G
XR_939385.1:n.578-2066C>G
XR_939386.1:n.1262-2066C>G
XR_939387.1:n.1262-2066C>G
XR_939388.1:n.1262-2066C>G
XM_005262955.3:c.1943G>C	XP_005263012.1:p.Ser648Thr
XM_005262956.3:c.1238G>C	XP_005263013.1:p.Ser413Thr
XM_005262957.3:c.1238G>C	XP_005263014.1:p.Ser413Thr
XM_006714196.2:c.1943G>C	XP_006714259.1:p.Ser648Thr
XM_006714197.2:c.1943G>C	XP_006714260.1:p.Ser648Thr
XM_011531900.2:c.1238G>C	XP_011530202.1:p.Ser413Thr
XR_001741896.1:n.2539-2125C>G
XR_001741897.1:n.2525-2125C>G
XR_001741898.1:n.1281-2125C>G
XR_001741899.1:n.689-2125C>G
NM_000856.6:c.1943G>C	NP_000847.2:p.Ser648Thr
NM_001130682.3:c.1943G>C MANE Select	NP_001124154.1:p.Ser648Thr
NM_001130683.4:c.1943G>C	NP_001124155.1:p.Ser648Thr
NM_001130684.3:c.1943G>C	NP_001124156.1:p.Ser648Thr
NM_001130685.3:c.1238G>C	NP_001124157.1:p.Ser413Thr
NM_001256449.2:c.1943G>C	NP_001243378.1:p.Ser648Thr
NM_001379666.1:c.1943G>C	NP_001366595.1:p.Ser648Thr
NM_001379667.1:c.1943G>C	NP_001366596.1:p.Ser648Thr
NM_001379668.1:c.1943G>C	NP_001366597.1:p.Ser648Thr
NM_001379669.1:c.1943G>C	NP_001366598.1:p.Ser648Thr
NM_001379670.1:c.1943G>C	NP_001366599.1:p.Ser648Thr
NM_001379671.1:c.1943G>C	NP_001366600.1:p.Ser648Thr
NM_001379672.1:c.1943G>C	NP_001366601.1:p.Ser648Thr
NM_001379673.1:c.1943G>C	NP_001366602.1:p.Ser648Thr
NM_001379674.1:c.1943G>C	NP_001366603.1:p.Ser648Thr
NM_001379675.1:c.1788G>C	NP_001366604.1:p.Ter596Tyr
NM_001379676.1:c.1436G>C	NP_001366605.1:p.Ser479Thr