Canonical Allele Identifier: CA10625244

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 358863
• ClinVar RCV Id: RCV000359326 ; RCV000398794
• dbSNP Id: rs535964010
• gnomAD v2: 7-128032802-C-T
• gnomAD v3: 7-128392748-C-T
• gnomAD v4: 7-128392748-C-T
• MyVariant Identifiers: chr7:g.128032802C>T (hg19) ; chr7:g.128392748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128392748C>T , CM000669.2:g.128392748C>T	GRCh38
NC_000007.13:g.128032802C>T , CM000669.1:g.128032802C>T	GRCh37
NC_000007.12:g.127820038C>T	NCBI36
NG_009194.1:g.22235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.*259G>A	ENSP00000265385.8:n.*259G>A
ENST00000484496.6:n.1951G>A
ENST00000338791.11:c.*259G>A MANE Select	ENSP00000345096.6:n.*259G>A
ENST00000338791.10:c.*259G>A	ENSP00000345096.6:n.*259G>A
ENST00000348127.10:c.*259G>A	ENSP00000265385.8:n.*259G>A
ENST00000354269.9:c.*259G>A	ENSP00000346219.5:n.*259G>A
ENST00000419067.6:c.1960G>A	ENSP00000399400.2:n.1960G>A
ENST00000469328.5:c.1824G>A
ENST00000470772.5:c.*259G>A	ENSP00000417296.1:n.*259G>A
ENST00000484496.5:c.1951G>A	ENSP00000418742.1:n.1951G>A
ENST00000496200.5:c.*259G>A	ENSP00000420803.1:n.*259G>A
ENST00000626419.2:c.*259G>A	ENSP00000486056.1:n.*259G>A
NM_000883.3:c.*259G>A	NP_000874.2:n.*259G>A
NM_001102605.1:c.*259G>A	NP_001096075.1:n.*259G>A
NM_001142573.1:c.*259G>A	NP_001136045.1:n.*259G>A
NM_001142574.1:c.*259G>A	NP_001136046.1:n.*259G>A
NM_001142575.1:c.*259G>A	NP_001136047.1:n.*259G>A
NM_001142576.1:c.*259G>A	NP_001136048.1:n.*259G>A
NM_001304521.1:c.*259G>A	NP_001291450.1:n.*259G>A
NM_183243.2:c.*259G>A	NP_899066.1:n.*259G>A
XM_005250314.1:c.*259G>A	XP_005250371.1:n.*259G>A
XM_006715967.1:c.*180G>A	XP_006716030.1:n.*180G>A
XM_006715968.1:c.*180G>A	XP_006716031.1:n.*180G>A
XM_006715969.1:c.*180G>A	XP_006716032.1:n.*180G>A
XM_006715970.2:c.*180G>A	XP_006716033.1:n.*180G>A
XM_006715971.1:c.*180G>A	XP_006716034.1:n.*180G>A
XM_011516156.1:c.*180G>A	XP_011514458.1:n.*180G>A
XM_011516157.1:c.*259G>A	XP_011514459.1:n.*259G>A
XM_017012172.1:c.*259G>A	XP_016867661.1:n.*259G>A
XM_024446755.1:c.*180G>A	XP_024302523.1:n.*180G>A
XM_024446756.1:c.*180G>A	XP_024302524.1:n.*180G>A
XM_024446757.1:c.*180G>A	XP_024302525.1:n.*180G>A
XM_024446758.1:c.*180G>A	XP_024302526.1:n.*180G>A
NM_000883.4:c.*259G>A MANE Select	NP_000874.2:n.*259G>A
NM_001102605.2:c.*259G>A	NP_001096075.1:n.*259G>A
NM_001142573.2:c.*259G>A	NP_001136045.1:n.*259G>A
NM_001142574.2:c.*259G>A	NP_001136046.1:n.*259G>A
NM_001142575.2:c.*259G>A	NP_001136047.1:n.*259G>A
NM_001142576.2:c.*259G>A	NP_001136048.1:n.*259G>A
NM_001304521.2:c.*259G>A	NP_001291450.1:n.*259G>A
NM_183243.3:c.*259G>A	NP_899066.1:n.*259G>A