Canonical Allele Identifier: CA527131485

Gene: SELP

Linked Data

• dbSNP Id: rs1443338048
• gnomAD v2: 1-169580542-C-T
• gnomAD v3: 1-169611304-C-T
• gnomAD v4: 1-169611304-C-T
• MyVariant Identifiers: chr1:g.169580542C>T (hg19) ; chr1:g.169611304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169611304C>T , CM000663.2:g.169611304C>T	GRCh38
NC_000001.10:g.169580542C>T , CM000663.1:g.169580542C>T	GRCh37
NC_000001.9:g.167847166C>T	NCBI36
NG_012125.1:g.23836G>A
NG_012125.2:g.23836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263686.11:c.1147+188G>A MANE Select	ENSP00000263686.5:n.1147+188G>A
ENST00000263686.10:c.1147+188G>A	ENSP00000263686.5:n.1147+188G>A
ENST00000367786.6:c.961+913G>A	ENSP00000356760.1:n.961+913G>A
ENST00000367788.6:c.961+188G>A	ENSP00000356762.1:n.961+188G>A
ENST00000367795.2:c.961+913G>A	ENSP00000356769.2:n.961+913G>A
ENST00000426706.6:c.1144+188G>A	ENSP00000391694.2:n.1144+188G>A
ENST00000458599.6:c.961+913G>A	ENSP00000399368.2:n.961+913G>A
NM_003005.3:c.1147+188G>A	NP_002996.2:n.1147+188G>A
XM_005245435.1:c.1147+188G>A	XP_005245492.1:n.1147+188G>A
XM_005245436.2:c.1147+188G>A	XP_005245493.1:n.1147+188G>A
XM_005245438.1:c.1147+188G>A	XP_005245495.1:n.1147+188G>A
XM_005245439.1:c.1147+188G>A	XP_005245496.1:n.1147+188G>A
XM_005245440.1:c.961+913G>A	XP_005245497.1:n.961+913G>A
XM_005245435.2:c.1147+188G>A	XP_005245492.1:n.1147+188G>A
XM_005245436.4:c.1147+188G>A	XP_005245493.1:n.1147+188G>A
XM_005245438.2:c.1147+188G>A	XP_005245495.1:n.1147+188G>A
XM_005245439.2:c.1147+188G>A	XP_005245496.1:n.1147+188G>A
XM_005245440.2:c.961+913G>A	XP_005245497.1:n.961+913G>A
NM_003005.4:c.1147+188G>A MANE Select	NP_002996.2:n.1147+188G>A