Canonical Allele Identifier: CA369169375

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 2735088
• ClinVar RCV Id: RCV003555371
• MyVariant Identifiers: chr7:g.128038607A>G (hg19) ; chr7:g.128398553A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398553A>G , CM000669.2:g.128398553A>G	GRCh38
NC_000007.13:g.128038607A>G , CM000669.1:g.128038607A>G	GRCh37
NC_000007.12:g.127825843A>G	NCBI36
NG_009194.1:g.16430T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.827T>C	ENSP00000265385.8:p.Leu276Pro
ENST00000484496.6:n.810T>C
ENST00000338791.11:c.935T>C MANE Select	ENSP00000345096.6:p.Leu312Pro
ENST00000648462.1:c.567T>C
ENST00000338791.10:c.935T>C	ENSP00000345096.6:p.Leu312Pro
ENST00000348127.10:c.827T>C	ENSP00000265385.8:p.Leu276Pro
ENST00000354269.9:c.905T>C	ENSP00000346219.5:p.Leu302Pro
ENST00000419067.6:c.836T>C	ENSP00000399400.2:p.Leu279Pro
ENST00000468842.1:n.524T>C
ENST00000469328.5:c.700T>C
ENST00000470772.5:c.677T>C	ENSP00000417296.1:p.Leu226Pro
ENST00000480861.5:c.665T>C	ENSP00000420185.1:p.Leu222Pro
ENST00000484496.5:c.810T>C	ENSP00000418742.1:n.810T>C
ENST00000496200.5:c.605T>C	ENSP00000420803.1:p.Leu202Pro
ENST00000497868.5:c.728T>C	ENSP00000419609.1:p.Leu243Pro
ENST00000626419.2:c.677T>C	ENSP00000486056.1:p.Leu226Pro
NM_000883.3:c.935T>C	NP_000874.2:p.Leu312Pro
NM_001102605.1:c.905T>C	NP_001096075.1:p.Leu302Pro
NM_001142573.1:c.680T>C	NP_001136045.1:p.Leu227Pro
NM_001142574.1:c.665T>C	NP_001136046.1:p.Leu222Pro
NM_001142575.1:c.605T>C	NP_001136047.1:p.Leu202Pro
NM_001142576.1:c.836T>C	NP_001136048.1:p.Leu279Pro
NM_001304521.1:c.728T>C	NP_001291450.1:p.Leu243Pro
NM_183243.2:c.827T>C	NP_899066.1:p.Leu276Pro
XM_005250314.1:c.704T>C	XP_005250371.1:p.Leu235Pro
XM_006715967.1:c.935T>C	XP_006716030.1:p.Leu312Pro
XM_006715968.1:c.905T>C	XP_006716031.1:p.Leu302Pro
XM_006715969.1:c.827T>C	XP_006716032.1:p.Leu276Pro
XM_006715970.2:c.728T>C	XP_006716033.1:p.Leu243Pro
XM_006715971.1:c.704T>C	XP_006716034.1:p.Leu235Pro
XM_011516156.1:c.317T>C	XP_011514458.1:p.Leu106Pro
XM_011516157.1:c.317T>C	XP_011514459.1:p.Leu106Pro
XM_017012172.1:c.704T>C	XP_016867661.1:p.Leu235Pro
XM_017012173.1:c.905T>C	XP_016867662.1:p.Leu302Pro
XM_024446755.1:c.905T>C	XP_024302523.1:p.Leu302Pro
XM_024446756.1:c.827T>C	XP_024302524.1:p.Leu276Pro
XM_024446757.1:c.728T>C	XP_024302525.1:p.Leu243Pro
XM_024446758.1:c.704T>C	XP_024302526.1:p.Leu235Pro
NM_000883.4:c.935T>C MANE Select	NP_000874.2:p.Leu312Pro
NM_001102605.2:c.905T>C	NP_001096075.1:p.Leu302Pro
NM_001142573.2:c.680T>C	NP_001136045.1:p.Leu227Pro
NM_001142574.2:c.665T>C	NP_001136046.1:p.Leu222Pro
NM_001142575.2:c.605T>C	NP_001136047.1:p.Leu202Pro
NM_001142576.2:c.836T>C	NP_001136048.1:p.Leu279Pro
NM_001304521.2:c.728T>C	NP_001291450.1:p.Leu243Pro
NM_183243.3:c.827T>C	NP_899066.1:p.Leu276Pro