Canonical Allele Identifier: CA438358694

Gene: ADD1

Linked Data

• MyVariant Identifiers: chr4:g.2906811G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2905084G>C , CM000666.2:g.2905084G>C	GRCh38
NC_000004.11:g.2906811G>C , CM000666.1:g.2906811G>C	GRCh37
NC_000004.10:g.2876609G>C	NCBI36
NG_012037.1:g.66228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683351.1:c.1482G>C MANE Select	ENSP00000508142.1:p.Val494=
ENST00000651918.1:c.1413+69G>C	ENSP00000498269.1:n.1413+69G>C
ENST00000264758.11:c.1482G>C	ENSP00000264758.6:p.Val494=
ENST00000355842.7:c.1413+69G>C	ENSP00000348100.3:n.1413+69G>C
ENST00000398123.6:c.1482G>C	ENSP00000381191.2:p.Val494=
ENST00000398125.5:c.1482G>C	ENSP00000381193.1:p.Val494=
ENST00000398129.5:c.1413+69G>C	ENSP00000381197.1:n.1413+69G>C
ENST00000446856.5:c.*68+69G>C	ENSP00000399828.2:n.*68+69G>C
ENST00000503169.5:n.1757G>C
ENST00000503455.6:c.1482G>C	ENSP00000423024.2:p.Val494=
ENST00000513328.6:c.1413+69G>C	ENSP00000421907.2:n.1413+69G>C
ENST00000514940.5:c.599G>C
ENST00000536078.1:n.352+69G>C
NM_001119.4:c.1413+69G>C	NP_001110.2:n.1413+69G>C
NM_001286645.1:c.1413+69G>C	NP_001273574.1:n.1413+69G>C
NM_014189.3:c.1482G>C	NP_054908.2:p.Val494=
NM_014190.3:c.1413+69G>C	NP_054909.2:n.1413+69G>C
NM_176801.2:c.1482G>C	NP_789771.1:p.Val494=
XM_005247933.1:c.1482G>C	XP_005247990.1:p.Val494=
XM_005247934.1:c.1482G>C	XP_005247991.1:p.Val494=
XM_005247935.1:c.1413+69G>C	XP_005247992.1:n.1413+69G>C
XM_005247936.1:c.1482G>C	XP_005247993.1:p.Val494=
XM_005247937.1:c.1413+69G>C	XP_005247994.1:n.1413+69G>C
NM_001354754.1:c.1413+69G>C	NP_001341683.1:n.1413+69G>C
NM_001354755.1:c.1413+69G>C	NP_001341684.1:n.1413+69G>C
NM_001354756.1:c.1413+69G>C	NP_001341685.1:n.1413+69G>C
NM_001354757.1:c.1413+69G>C	NP_001341686.1:n.1413+69G>C
NM_001354758.1:c.1413+69G>C	NP_001341687.1:n.1413+69G>C
NM_001354759.1:c.1413+69G>C	NP_001341688.1:n.1413+69G>C
NM_001354761.1:c.1482G>C	NP_001341690.1:p.Val494=
NM_001354762.1:c.1482G>C	NP_001341691.1:p.Val494=
XM_005247934.2:c.1482G>C	XP_005247991.1:p.Val494=
XM_017007703.1:c.1482G>C	XP_016863192.1:p.Val494=
XM_017007704.1:c.1482G>C	XP_016863193.1:p.Val494=
XM_017007705.1:c.1413+69G>C	XP_016863194.1:n.1413+69G>C
XM_017007706.2:c.1413+69G>C	XP_016863195.1:n.1413+69G>C
XM_017007709.2:c.1413+69G>C	XP_016863198.1:n.1413+69G>C
XM_024453887.1:c.1482G>C	XP_024309655.1:p.Val494=
XR_002959706.1:n.1548G>C
XR_002959707.1:n.1690+69G>C
NM_001119.5:c.1413+69G>C	NP_001110.2:n.1413+69G>C
NM_001354754.2:c.1413+69G>C	NP_001341683.1:n.1413+69G>C
NM_001354756.2:c.1413+69G>C	NP_001341685.1:n.1413+69G>C
NM_001354757.2:c.1413+69G>C	NP_001341686.1:n.1413+69G>C
NM_001354759.2:c.1413+69G>C	NP_001341688.1:n.1413+69G>C
NM_001354761.2:c.1482G>C MANE Select	NP_001341690.1:p.Val494=
NM_001354762.2:c.1482G>C	NP_001341691.1:p.Val494=
NM_014190.4:c.1413+69G>C	NP_054909.2:n.1413+69G>C
NM_001286645.2:c.1413+69G>C	NP_001273574.1:n.1413+69G>C
NM_001354755.2:c.1413+69G>C	NP_001341684.1:n.1413+69G>C
NM_001354758.2:c.1413+69G>C	NP_001341687.1:n.1413+69G>C
NM_014189.4:c.1482G>C	NP_054908.2:p.Val494=
NM_176801.3:c.1482G>C	NP_789771.1:p.Val494=