Canonical Allele Identifier: CA346209988

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598383T>C (hg19) ; chr2:g.27375516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375516T>C , CM000664.2:g.27375516T>C	GRCh38
NC_000002.11:g.27598383T>C , CM000664.1:g.27598383T>C	GRCh37
NC_000002.10:g.27451887T>C	NCBI36
NG_028219.1:g.10229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.785T>C MANE Select	ENSP00000233575.2:p.Leu262Pro
ENST00000233575.6:c.785T>C	ENSP00000233575.2:p.Leu262Pro
ENST00000427123.5:c.*595T>C	ENSP00000405399.1:n.*595T>C
ENST00000440760.5:c.*630T>C	ENSP00000399727.1:n.*630T>C
ENST00000453453.1:c.*312T>C	ENSP00000401922.1:n.*312T>C
ENST00000493711.1:n.502T>C
ENST00000494893.5:n.961T>C
ENST00000537606.5:c.710T>C	ENSP00000439208.1:p.Leu237Pro
NM_001267059.1:c.749T>C	NP_001253988.1:p.Leu250Pro
NM_001267060.1:c.710T>C	NP_001253989.1:p.Leu237Pro
NM_001267061.1:c.725T>C	NP_001253990.1:p.Leu242Pro
NM_014748.3:c.785T>C	NP_055563.1:p.Leu262Pro
NR_049782.1:n.1158T>C
NR_049783.1:n.1131T>C
NR_049784.1:n.1107T>C
NR_049785.1:n.1040T>C
NR_049786.1:n.989T>C
NR_049787.1:n.840T>C
NR_049788.1:n.770T>C
XM_011533203.1:c.143T>C	XP_011531505.1:p.Leu48Pro
XM_011533203.2:c.143T>C	XP_011531505.1:p.Leu48Pro
XM_017005405.2:c.143T>C	XP_016860894.1:p.Leu48Pro
NM_014748.4:c.785T>C MANE Select	NP_055563.1:p.Leu262Pro
NM_001267059.2:c.749T>C	NP_001253988.1:p.Leu250Pro
NM_001267061.2:c.725T>C	NP_001253990.1:p.Leu242Pro
NR_049782.2:n.1038T>C
NR_049783.2:n.1011T>C
NR_049784.2:n.987T>C
NR_049785.2:n.920T>C
NR_049786.2:n.869T>C
NR_049787.2:n.720T>C
NR_049788.2:n.650T>C
NM_001267060.2:c.710T>C	NP_001253989.1:p.Leu237Pro