Canonical Allele Identifier: CA369169799

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128398595-T-C
• MyVariant Identifiers: chr7:g.128038649T>C (hg19) ; chr7:g.128398595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398595T>C , CM000669.2:g.128398595T>C	GRCh38
NC_000007.13:g.128038649T>C , CM000669.1:g.128038649T>C	GRCh37
NC_000007.12:g.127825885T>C	NCBI36
NG_009194.1:g.16388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.785A>G	ENSP00000265385.8:p.Asn262Ser
ENST00000484496.6:n.768A>G
ENST00000338791.11:c.893A>G MANE Select	ENSP00000345096.6:p.Asn298Ser
ENST00000648462.1:c.525A>G
ENST00000338791.10:c.893A>G	ENSP00000345096.6:p.Asn298Ser
ENST00000348127.10:c.785A>G	ENSP00000265385.8:p.Asn262Ser
ENST00000354269.9:c.863A>G	ENSP00000346219.5:p.Asn288Ser
ENST00000419067.6:c.794A>G	ENSP00000399400.2:p.Asn265Ser
ENST00000468842.1:n.482A>G
ENST00000469328.5:c.658A>G
ENST00000470772.5:c.635A>G	ENSP00000417296.1:p.Asn212Ser
ENST00000480861.5:c.623A>G	ENSP00000420185.1:p.Asn208Ser
ENST00000484496.5:c.768A>G	ENSP00000418742.1:n.768A>G
ENST00000496200.5:c.563A>G	ENSP00000420803.1:p.Asn188Ser
ENST00000497868.5:c.686A>G	ENSP00000419609.1:p.Asn229Ser
ENST00000626419.2:c.635A>G	ENSP00000486056.1:p.Asn212Ser
NM_000883.3:c.893A>G	NP_000874.2:p.Asn298Ser
NM_001102605.1:c.863A>G	NP_001096075.1:p.Asn288Ser
NM_001142573.1:c.638A>G	NP_001136045.1:p.Asn213Ser
NM_001142574.1:c.623A>G	NP_001136046.1:p.Asn208Ser
NM_001142575.1:c.563A>G	NP_001136047.1:p.Asn188Ser
NM_001142576.1:c.794A>G	NP_001136048.1:p.Asn265Ser
NM_001304521.1:c.686A>G	NP_001291450.1:p.Asn229Ser
NM_183243.2:c.785A>G	NP_899066.1:p.Asn262Ser
XM_005250314.1:c.662A>G	XP_005250371.1:p.Asn221Ser
XM_006715967.1:c.893A>G	XP_006716030.1:p.Asn298Ser
XM_006715968.1:c.863A>G	XP_006716031.1:p.Asn288Ser
XM_006715969.1:c.785A>G	XP_006716032.1:p.Asn262Ser
XM_006715970.2:c.686A>G	XP_006716033.1:p.Asn229Ser
XM_006715971.1:c.662A>G	XP_006716034.1:p.Asn221Ser
XM_011516156.1:c.275A>G	XP_011514458.1:p.Asn92Ser
XM_011516157.1:c.275A>G	XP_011514459.1:p.Asn92Ser
XM_017012172.1:c.662A>G	XP_016867661.1:p.Asn221Ser
XM_017012173.1:c.863A>G	XP_016867662.1:p.Asn288Ser
XM_024446755.1:c.863A>G	XP_024302523.1:p.Asn288Ser
XM_024446756.1:c.785A>G	XP_024302524.1:p.Asn262Ser
XM_024446757.1:c.686A>G	XP_024302525.1:p.Asn229Ser
XM_024446758.1:c.662A>G	XP_024302526.1:p.Asn221Ser
NM_000883.4:c.893A>G MANE Select	NP_000874.2:p.Asn298Ser
NM_001102605.2:c.863A>G	NP_001096075.1:p.Asn288Ser
NM_001142573.2:c.638A>G	NP_001136045.1:p.Asn213Ser
NM_001142574.2:c.623A>G	NP_001136046.1:p.Asn208Ser
NM_001142575.2:c.563A>G	NP_001136047.1:p.Asn188Ser
NM_001142576.2:c.794A>G	NP_001136048.1:p.Asn265Ser
NM_001304521.2:c.686A>G	NP_001291450.1:p.Asn229Ser
NM_183243.3:c.785A>G	NP_899066.1:p.Asn262Ser