Canonical Allele Identifier: CA14062712

Gene: GPATCH2L

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76184421T>C , CM000676.2:g.76184421T>C	GRCh38
NC_000014.8:g.76650764T>C , CM000676.1:g.76650764T>C	GRCh37
NC_000014.7:g.75720517T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261530.12:c.1193+3572T>C MANE Select	ENSP00000261530.7:n.1193+3572T>C
ENST00000261530.11:c.1193+3572T>C	ENSP00000261530.7:n.1193+3572T>C
ENST00000312858.9:c.1178+3572T>C	ENSP00000323775.5:n.1178+3572T>C
ENST00000553588.1:c.55+3572T>C	ENSP00000451868.1:n.55+3572T>C
ENST00000554375.5:c.*195+3572T>C	ENSP00000452180.1:n.*195+3572T>C
ENST00000554799.1:c.55+3572T>C	ENSP00000451325.1:n.55+3572T>C
ENST00000556675.2:n.35+3572T>C
ENST00000621494.1:c.1178+3572T>C	ENSP00000480608.1:n.1178+3572T>C
NM_017926.3:c.1193+3572T>C	NP_060396.2:n.1193+3572T>C
NM_017972.3:c.1178+3572T>C	NP_060442.2:n.1178+3572T>C
NR_110314.1:n.1303+3572T>C
XM_006720191.2:c.1178+3572T>C	XP_006720254.1:n.1178+3572T>C
XM_011536933.1:c.1193+3572T>C	XP_011535235.1:n.1193+3572T>C
XM_011536934.1:c.1193+3572T>C	XP_011535236.1:n.1193+3572T>C
XM_011536935.1:c.1107+6379T>C	XP_011535237.1:n.1107+6379T>C
XR_943486.1:n.1197+6379T>C
XR_943487.1:n.1197+6379T>C
XR_943488.1:n.1197+6379T>C
XR_943489.1:n.1398+3572T>C
NM_001322028.1:c.1193+3572T>C	NP_001308957.1:n.1193+3572T>C
NM_001322029.1:c.1193+3572T>C	NP_001308958.1:n.1193+3572T>C
NM_001322030.1:c.1193+3572T>C	NP_001308959.1:n.1193+3572T>C
XM_017021427.1:c.1232+3572T>C	XP_016876916.1:n.1232+3572T>C
XM_017021428.1:c.1217+3572T>C	XP_016876917.1:n.1217+3572T>C
XM_017021429.1:c.1232+3572T>C	XP_016876918.1:n.1232+3572T>C
XM_017021430.1:c.1217+3572T>C	XP_016876919.1:n.1217+3572T>C
XM_017021431.1:c.1232+3572T>C	XP_016876920.1:n.1232+3572T>C
XM_017021432.1:c.1232+3572T>C	XP_016876921.1:n.1232+3572T>C
XM_017021433.1:c.1178+3572T>C	XP_016876922.1:n.1178+3572T>C
XR_001750414.1:n.1424+6379T>C
XR_001750415.1:n.1424+6379T>C
XR_001750416.1:n.1424+6379T>C
XR_001750417.1:n.1625+3572T>C
XR_001750418.1:n.1610+3572T>C
NM_001322028.2:c.1193+3572T>C	NP_001308957.1:n.1193+3572T>C
NM_001322030.2:c.1193+3572T>C	NP_001308959.1:n.1193+3572T>C
NM_017926.4:c.1193+3572T>C MANE Select	NP_060396.2:n.1193+3572T>C
NM_001322029.2:c.1193+3572T>C	NP_001308958.1:n.1193+3572T>C
NM_001322030.3:c.1193+3572T>C	NP_001308959.1:n.1193+3572T>C