Canonical Allele Identifier: CA373443387

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429777T>C (hg19) ; chr9:g.37429780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429780T>C , CM000671.2:g.37429780T>C	GRCh38
NC_000009.11:g.37429777T>C , CM000671.1:g.37429777T>C	GRCh37
NC_000009.10:g.37419777T>C	NCBI36
NG_008135.1:g.12071T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.542T>C MANE Select	ENSP00000313432.6:p.Leu181Pro
ENST00000318158.10:c.542T>C	ENSP00000313432.6:p.Leu181Pro
ENST00000377824.8:n.579T>C
ENST00000460882.5:n.569T>C
ENST00000480596.5:n.1243T>C
ENST00000491488.5:n.247T>C
ENST00000494290.1:c.113T>C	ENSP00000432021.1:p.Leu38Pro
ENST00000497693.1:n.2075T>C
ENST00000607784.1:c.542T>C	ENSP00000475569.1:p.Leu181Pro
NM_012203.1:c.542T>C	NP_036335.1:p.Leu181Pro
XM_005251631.1:c.221T>C	XP_005251688.1:p.Leu74Pro
XM_011518073.1:c.140T>C	XP_011516375.1:p.Leu47Pro
XR_929374.1:n.987T>C
XM_017015320.2:c.542T>C	XP_016870809.1:p.Leu181Pro
XM_017015321.2:c.542T>C	XP_016870810.1:p.Leu181Pro
XM_017015323.2:c.140T>C	XP_016870812.1:p.Leu47Pro
XM_024447716.1:c.815T>C	XP_024303484.1:p.Leu272Pro
XM_024447717.1:c.815T>C	XP_024303485.1:p.Leu272Pro
XR_002956828.1:n.830T>C
XR_002956829.1:n.830T>C
XR_002956830.1:n.601T>C
XR_002956831.1:n.276T>C
XR_002956832.1:n.961T>C
NM_012203.2:c.542T>C MANE Select	NP_036335.1:p.Leu181Pro