Canonical Allele Identifier: CA32387362

Gene: SELP

Linked Data

• dbSNP Id: rs961811662
• gnomAD v3: 1-169611214-T-G
• gnomAD v4: 1-169611214-T-G
• MyVariant Identifiers: chr1:g.169580452T>G (hg19) ; chr1:g.169611214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169611214T>G , CM000663.2:g.169611214T>G	GRCh38
NC_000001.10:g.169580452T>G , CM000663.1:g.169580452T>G	GRCh37
NC_000001.9:g.167847076T>G	NCBI36
NG_012125.1:g.23926A>C
NG_012125.2:g.23926A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263686.11:c.1147+278A>C MANE Select	ENSP00000263686.5:n.1147+278A>C
ENST00000263686.10:c.1147+278A>C	ENSP00000263686.5:n.1147+278A>C
ENST00000367786.6:c.961+1003A>C	ENSP00000356760.1:n.961+1003A>C
ENST00000367788.6:c.961+278A>C	ENSP00000356762.1:n.961+278A>C
ENST00000367795.2:c.961+1003A>C	ENSP00000356769.2:n.961+1003A>C
ENST00000426706.6:c.1144+278A>C	ENSP00000391694.2:n.1144+278A>C
ENST00000458599.6:c.961+1003A>C	ENSP00000399368.2:n.961+1003A>C
NM_003005.3:c.1147+278A>C	NP_002996.2:n.1147+278A>C
XM_005245435.1:c.1147+278A>C	XP_005245492.1:n.1147+278A>C
XM_005245436.2:c.1147+278A>C	XP_005245493.1:n.1147+278A>C
XM_005245438.1:c.1147+278A>C	XP_005245495.1:n.1147+278A>C
XM_005245439.1:c.1147+278A>C	XP_005245496.1:n.1147+278A>C
XM_005245440.1:c.961+1003A>C	XP_005245497.1:n.961+1003A>C
XM_005245435.2:c.1147+278A>C	XP_005245492.1:n.1147+278A>C
XM_005245436.4:c.1147+278A>C	XP_005245493.1:n.1147+278A>C
XM_005245438.2:c.1147+278A>C	XP_005245495.1:n.1147+278A>C
XM_005245439.2:c.1147+278A>C	XP_005245496.1:n.1147+278A>C
XM_005245440.2:c.961+1003A>C	XP_005245497.1:n.961+1003A>C
NM_003005.4:c.1147+278A>C MANE Select	NP_002996.2:n.1147+278A>C