Canonical Allele Identifier: CA973846
Gene: COL11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.102915659G>A
GRCh37 chr1:g.103381215G>A
Revel Score:
ENST00000370096 (MANE Select) 0.713
ENST00000358392 0.713
ENST00000353414 0.713
ENST00000370090 0.713
ENST00000512756 0.713
gnomAD v2:
1:103381215 G / A
gnomAD v3:
1:102915659 G / A
gnomAD v4:
chr1-102915659-G-A
Joint Max Group AF 0.00276222 (EAS)
Genomes Max Group AF 0.00050218 (EAS)
Exomes Max Group AF 0.00298311 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102915659G>A , CM000663.2:g.102915659G>A GRCh38
NC_000001.10:g.103381215G>A , CM000663.1:g.103381215G>A GRCh37
NC_000001.9:g.103153803G>A NCBI36
NG_008033.1:g.197838C>T
NG_008033.2:g.197838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3788C>T MANE Select ENSP00000359114.3:p.Pro1263Leu
ENST00000353414.8:c.3671C>T ENSP00000302551.6:p.Pro1224Leu
ENST00000358392.6:c.3824C>T ENSP00000351163.2:p.Pro1275Leu
ENST00000370096.7:c.3788C>T ENSP00000359114.3:p.Pro1263Leu
ENST00000512756.5:c.3440C>T ENSP00000426533.1:p.Pro1147Leu
ENST00000635193.1:c.3122C>T
NM_001190709.1:c.3671C>T NP_001177638.1:p.Pro1224Leu
NM_001854.3:c.3788C>T NP_001845.3:p.Pro1263Leu
NM_080629.2:c.3824C>T NP_542196.2:p.Pro1275Leu
NM_080630.3:c.3440C>T NP_542197.3:p.Pro1147Leu
XM_011540719.1:c.3788C>T XP_011539021.1:p.Pro1263Leu
XM_011540720.1:c.2021C>T XP_011539022.1:p.Pro674Leu
XM_011540721.1:c.1376C>T XP_011539023.1:p.Pro459Leu
NR_134980.1:n.4122C>T
XM_017000334.1:c.3941C>T XP_016855823.1:p.Pro1314Leu
XM_017000335.1:c.3935C>T XP_016855824.1:p.Pro1312Leu
XM_017000336.1:c.3941C>T XP_016855825.1:p.Pro1314Leu
XM_017000337.1:c.2339C>T XP_016855826.1:p.Pro780Leu
NM_001854.4:c.3788C>T MANE Select NP_001845.3:p.Pro1263Leu
NM_080630.4:c.3440C>T NP_542197.3:p.Pro1147Leu
NR_134980.2:n.4148C>T
NM_001190709.2:c.3671C>T NP_001177638.1:p.Pro1224Leu
NM_080629.3:c.3824C>T NP_542196.2:p.Pro1275Leu
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